Seminars in Diagnostic Pathology 36 (2019) 48–61

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Seminars in Diagnostic Pathology

journal homepage: www.elsevier.com/locate/semdp

Review article

Hamartomas of skin and soft tissue T

a b c,1,⁎
B. Joel Tjarks , Jerad M. Gardner , Nicole D. Riddle
a
Departments of Laboratory Medicine and Dermatology, Geisinger Health System, Danville, PA, United States
b
Departments of Pathology and Dermatology, University of Arkansas for Medical Sciences, Little Rock, AR, United States
c
Department of Pathology and Cell Biology – USF Health, Ruffolo, Hooper, and Associates, Tampa, FL, United States

A R T I C LE I N FO A B S T R A C T

Keywords: Hamartomas are benign lesions composed of aberrant disorganized growth of mature tissues. Choristomas are
Hamartoma similar, except that they are composed of tissues not normally found at the anatomic site in which the lesion is
Choristoma arising. A wide range of hamartomas and choristomas can arise in the skin and soft tissue. Some of these may
Ectopic cause diagnostic difficulty and potentially be mistaken for neoplasms. Some neoplasms may resemble hamar-
Heterotopia
atomas. Here we review the current clinical and pathologic features of these lesions, both common and rare, and
Vascular malformation
discuss how to distinguish them from other entities in the differential diagnosis.
Nevus sebaceus

Introduction
The word hamartoma is derived from the Greek word meaning “to
err” or “fault”, hamartanein, with the addition of “-oma” which denotes
a tumor-like growth. They are traditionally defined as benign lesions
that are often present at birth, but can also be acquired later in life, and
are composed of aberrant growth of mature structures, but often with
disorganized architecture.1 They are often considered a developmental
error and may occur in any body site. Embryologic remnants or rests are
often considered to be hamartomatous if they form discrete masses. And
as true neoplastic processes can clinically and histologically mimic
hamartomas, proper diagnosis is paramount to avoid overtreatment.
Hamartomas are similar to, but distinguished from, choristomas
(ectopic tissue or heterotopia). Both are benign proliferations of mature
tissue, but the former is a malformation that resembles the tissue of its
origin/location; whereas the latter is a malformation of tissue that is
normally not found at that anatomic site. Thus, choristoma could be
regarded as a subtype of hamartoma.
Hamartomas are often asymptomatic and incidentally identified
lesions. Usually showing minimal growth, except as part of normal
growth of the body or under hormonal influence. However, morbidity
may arise due to obstruction, pressure on surrounding tissues, infarc-
tion, fracture, misdiagnosis, or, rarely, neoplastic transformation. They
may potentially cause cosmetic issues depending on their location.
Below is a list of currently recognized hamartomatous and chor-
istomatous lesions of the skin and soft tissue. Supplemental whole slide
digital images and other educational resources corresponding to the
entities discussed in this article are available free online at http://bit.
ly/2AzovfO (or scan the QR code in Fig. 1).
Neuromuscular choristoma
Neuromuscular choristoma (aka benign triton tumor) is a rare
congenital developmental lesion composed of mature skeletal muscle
and found within peripheral nerves.2,3 Patients often present in the first
decade of life (80%), though there are reports up to age 74. There is no
apparent gender predilection. Common symptoms include progressive
neuropathy (numbness and weakness) and limb atrophy. The most
common location is the brachial plexus (25%), followed by the sciatic
nerve (15%), and cranial nerves (collectively 45%) with other loca-
tions, including cutaneous lesions, having been reported.2–30 Sciatic
nerve involvement often leads to manifestations in the distal limb, in-
cluding neuropathy, length discrepancy, and a cavus foot defor-
mity.2,4,31–34 If there is proximal involvement of the lumbosacral
plexus, hip dysplasia may occur.2 When cranial nerves are involved,
patients may have facial palsies, deafness, and/or vision loss.
Histology demonstrates a mixture of well-differentiated skeletal
muscle cells and nerve fibers, with one case describing scattered adi-
pose tissue (raising the possibility of rhabdomyomatous mesenchymal
hamartoma, see below).35 This is in contrast to a striated muscle ha-
martoma that is usually composed of mature striated muscle with oc-
casional other mesodermal elements, such as adipose tissue or carti-
lage.36 Of note, S100 is positive in the muscle as well as neural
elements.34

⁎
Corresponding author.
E-mail address: NRiddleMD@gmail.com (N.D. Riddle).
1
https://twitter.com/NRiddleMD.

https://doi.org/10.1053/j.semdp.2018.12.001

0740-2570/ © 2018 Elsevier Inc. All rights reserved.

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B.J. Tjarks et al.
Fig. 1. Lipomatosis of nerve. Nerve bundles are surrounded by abundant ma-
ture adipose tissue. H&E; 5x magnification. Supplemental whole slide digital
images and other educational resources corresponding to the entities discussed
in this article are available free online at http://bit.ly/2AzovfO (or scan the QR
code).
Lipomatosis of nerve
Lipomatosis of nerve (LN, aka fibrolipomatous hamartoma or lipo-
fibromatous hamartoma of nerve) is a benign overgrowth of perineural
fibroadipose tissue that consists of infiltration of the epineurium and
perineurium by adipose and fibrocollagenous tissue resulting in overall
enlargement of the nerve.37 The composition may have varying
amounts of adipose tissue, some being diffusely lipomatous, and rarely
having areas of osseous metaplasia.38 The most commonly reported
location is the median nerve at the wrist or palm, but any nerve can be
affected. LN has a classic MRI appearance with interfascicular adipose
tissue proliferation that produces a sausage-like swelling of the nerve
with associated splaying of nerve fascicles (Figs. 1 and 2).38,39 This
correlates with the concentric “onion bulb” look that is classically seen
on low-power evaluation. The differential diagnosis includes a diffuse
lipomatosis (would not be confined to the epineurium), and intraneural
lipoma (displaces nerve, but does not infiltrate), or traumatic neuroma
(may have “onion bulb” look, but lacks concentricity, generally low on
adipose tissue, and has high T2 signal density on MRI).
Fig. 2. Lipomatosis of nerve. Fat splays apart the individual nerve bundles. The
bundles show concentric perineurial hyperplasia and adjacent fibrosis. H&E;
35x magnification.
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Seminars in Diagnostic Pathology 36 (2019) 48–61
Smooth muscle hamartoma
Smooth-muscle hamartoma (SMH) is an uncommon, often con-
genital, cutaneous hyperplasia of the arrector pili muscles. Smooth-
muscle hamartoma has been subdivided into two types, congenital
(CSMH) and acquired (ASMH). Familial cases have been reported, but a
great majority are sporadic in nature.40 The lesions usually become less
prominent with time and there is no known associated systemic in-
volvement or malignant transformation.41
CSMH is generally single, but multiple lesions have been re-
ported.42,43 They typically present on the trunk, buttock, or proximal
extremities, though they may occur anywhere on the body.44,45 A po-
sitive pseudo-Darier sign (temporary induration, edema or piloerection
after rubbing) is common and there is a slight male predilection.42,46–49
Grossly, they are typically well-circumscribed, skin-colored or
variably hyperpigmented plaques that may have overlying hyper-
trichosis, though linear distribution and generalized variants have been
reported.44,48,50–53 The clinical differential diagnosis CSMH includes
congenital melanocytic (pigmented) nevus, Becker's melanosis, solitary
mastocytoma, pilar leiomyoma, cafe-au-lait macule, nevus pilosus, and
connective tissue nevus.54
Histologically, there is a marked hyperplasia of dermal smooth
muscle fibers, most prominent in the deep dermis. These smooth muscle
bundles are haphazardly arranged and often form a horizontal band
within the dermis (Figs. 3 and 4). They may or may not be associated
with a hair follicle. The overlying epidermis may show basal hy-
perpigmentation, acanthosis, and / or pseudoepitheliomatous hyper-
plasia.40 This histologic pattern is distinct from other soft tissue smooth
muscle lesions, save for the smooth muscle hyperplasia within a
Becker's nevus (which also has lentiginous junctional melanocytes in
the epidermis). Some authors believe these two lesions are part of a
spectrum, while others believe they are separate entities.55 Pilar leio-
myoma is composed of more abundant smooth muscle bundles that
form a solid mass rather than a disorganized horizontal band of muscle
bundles seen in smooth muscle hamartoma. Additionally, pilar leio-
myomas typically arise in adulthood.
Fibrous hamartoma of infancy
Fibrous hamartoma of infancy (FHI) is a rare soft tissue tumor that
Fig. 3. Smooth muscle hamartoma. Smooth muscle bundles are haphazardly
arranged and often form a horizontal band within the deep reticular dermis.
The bundles are less abundant than in pilar leiomyoma. H&E; 24x magnifica-
tion.
B.J. Tjarks et al. Seminars in Diagnostic Pathology 36 (2019) 48–61

Fig. 6. Fibrous hamartoma of infancy is composed of 3 components in varying

Fig. 4. Smooth muscle hamartoma. The muscle bundles are similar to normal
amounts: 1. Fascicles of bland (myo)fibroblasts with background collagen; 2.
arrector pili. H&E; 128x magnification.
Immature mesenchyme (bottom right); 3. Mature fat. H&E; 158x magnification.

usually presents in children under 2 years of age, although older chil-

dren may also be affected; approximately 20% are present at birth.56–58
FHI show a prominent male predilection and commonly occur in the
proximal upper extremity and trunk, though other locations have been
reported.59–61 They most often present as a painless subcutaneous mass
and MRI often shows an organized arrangement of fat with inter-
spersed, heterogeneous soft tissue bands that may suggest the diagnosis
in the appropriate clinical setting.62 Simple excision is typically cura-
tive, though up to 15% may recur.56,57,63,64 And rare cases with atypical
clinical features, such as large size, rapid growth, infiltrative growth,
and/or local recurrence have been reported.57,60,64–69
Grossly, the lesions are infiltrative with varying amounts of tan-
yellow adipose tissue and gray-tan fibrous tissue sometimes with pro-
minent areas of edema or myxoid change. Classic histology demon-
strates a triphasic morphology with varying amounts of mature adipose
tissue, myofibroblastic proliferation, and primitive mesenchymal com-
ponents. The fibrous areas usually show haphazardly arranged inter-
secting fascicles of low-grade, benign-appearing myofibroblastic cells,
reminiscent of fibromatosis, whereas the mesenchymal areas are highly
Fig. 7. Fibrous hamartoma of infancy. A high power view showing immature
vascular with spindle-to-stellate cells and myxoid change (Figs. 5–7).
mesenchyme with a myxoid background (top), a fascicle of parallel (myo)fi-
There are often lymphocyte aggregates noted, but mitotic figures are
broblasts with collagenous background (bottom), and mature fat (periphery).
H&E; 200x magnification.

rare and necrosis is absent. A significant subset of cases have hyalinized

Fig. 5. Fibrous hamartoma of infancy displays a haphazard intermingling of
fibrotic and mature fatty components in the subcutis. H&E; 60x magnification.
areas with ‘cracking’ artifact and pseudoangiomatous, fibroblast-lined
slit-like spaces which resemble giant cell fibroblastoma.58 The overall
cellularity may vary, but only very rarely have sarcomatous morpho-
logical features, with markedly elevated cellularity, high nuclear grade,
and brisk mitotic activity, been reported.70 Immunohistochemistry
shows variable expression of SMA (75%) in the myofibroblastic com-
ponent and CD34 in the primitive mesenchymal component as well as
the fibroblasts lining the spaces in hyalinized areas. S100 highlights the
adipocytes only and desmin, keratin, EMA, ALK1, CD117, and nuclear
beta-catenin are absent.71–73 EGFR exon 20 mutations were recently
discovered in FHI, suggesting that despite the long held hamartoma
nomenclature, this entity may actually be a neoplasm.74
The differential diagnosis of fibrous hamartoma of infancy is broad,
and dependent on the relative proportion of fat, mature fibrous tissue
and primitive mesenchymal elements. Predominantly adipocytic tu-
mors should be distinguished from lipofibromatosis (usually distal ex-
tremities with lipoblast-like cells), the ‘lipofibromatosis-like neural
tumor’ (children and CD34+, but also S100+ and NTRK1 rearrange-
ment), and maturing lipoblastoma (circumscribed lobular growth pat-
tern, lipoblasts, and PLAG1 rearrangement).75–77 Predominantly fibro-
blastic lesions may resemble desmoid-type fibromatosis (rare in young
children, rare in skin/subcutis, broad sweeping fascicles, beta-catenin
nuclear positive / CTNNB1 mutation), myofibroma (biphasic with

50

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B.J. Tjarks et al.
myoid nodules and intervening cellular areas with branching ectatic
vessels), and calcifying aponeurotic fibroma (has fascicles of fibroblasts,
but also has calcified, chondroid-esque nodules with surrounding round
cells and giant cells, FN1–EGF fusion).78–80 For cases showing a pre-
dominance of the primitive mesenchymal component and/or prominent
hyalinization with cracking artifact, the differential includes giant cell
fibroblastoma, a more aggressive soft tissue tumor (it is the pediatric
variant of dermatofibrosarcoma protuberans) that has a COL1A1-
PDGFB rearrangement. In rare cases that have sarcomatous areas, other
pediatric sarcomas, in particular infantile fibrosarcoma (ETV6 re-
arrangements) and spindle cell rhabdomyosarcoma (desmin, myogenin,
and MyoD1 positivity) must be ruled out.81
Rhabdomyomatous mesenchymal hamartoma
Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare con-
genital lesion arising in the deep dermis or subcutis that consists of
varying amounts of mature adipose tissue, skeletal muscle, nerve and
adnexal elements.82 Historically, it has had several names including
striated muscle hamartoma, congenital midline hamartoma, and ha-
martoma of cutaneous adnexa and mesenchyme. RMH usually present
as a solitary polypoid lesion on the head/neck of infants / young chil-
dren with a striking male prediliction.82–85 They may be associated with
other congenital anomalies such as amniotic band syndrome, cleft lip/
palate, ocular abnormalities, and Delleman or Goldenhar syn-
dromes.36,83,86
Histologically, RMH show a disordered proliferation of mature
adipose tissue, skeletal muscle, nerve fibers, collagenous fibrous tissue,
and adnexal structures. It characteristically has pilosebaceous units
“enveloped” by haphazard, benign-appearing, skeletal muscle fibers.
Malignant transformation has never been reported.
Immunohistochemistry highlights each component with its normal
markers and no specific genetic abnormality has been found.
The differential diagnosis includes accessory tragus and congenital
midline cleft. However, the former usually lacks a prominent skeletal
muscle component and the latter commonly occurs on the anterior
neck.87
Vascular malformations
Congenital malformations can be seen in any type of vessel, in-
cluding capillaries, veins, arteries, or lymphatics. Many lesions that
have been historically referred under the rubric of “hemangioma” are in
actuality likely vascular malformations (e.g. – cavernous hemangioma
is actually a venous malformation). Arteriovenous malformations
(AVM), by definition, consist of a complex network of inter-
communicating arterial and venous structures.88 They may have ar-
terio-venous shunting of blood flow. Vascular malformations are tech-
nically present at birth and grow proportionately with the child, but
may not become noticeable until much later in life, often growing
during puberty or pregnancy due to hormonal influences. In addition,
vascular malformations will not show involution with time.89,90
Histologically, vascular malformations show an increased number
of well-formed but disorganized capillaries, veins, arteries/arterioles,
and/or lymphatics, depending on the type. The endothelial cells lining
these channels are bland and usually relatively flat without atypia or
mitotic activity (Figs. 8–11). Immunohistochemistry shows expression
of expected vascular or lymphatic markers. An elastin stain may be a
helpful ancillary tool in identifying AVM, as it will highlight the in-
ternal elastic lamina.91
The main differential diagnosis is true hemangiomas, which are
benign neoplasms of endothelial cells. The endothelial lining is often
plumper than that seen in malformations, especially during the pro-
liferative phase. Some studies have shown increased fibronectin, per-
lecan, and laminin within the extracellular matrix 0f hemangiomas but
not in AVMs.92–94 In routine practice, these stains are not usually
51
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Seminars in Diagnostic Pathology 36 (2019) 48–61
needed. The clinical presentation and course of the lesion is also
helpful, as hemangiomas appear early in life, they often grow quickly
and may involute with time.
Mesenchymal hamartoma of the chest wall
Mesenchymal hamartoma of the chest wall (MHCW) is a rare lesion
that arises from one or more ribs, nearly always in early infancy and
with a male predominance of 3:1.95–98 Other names used include me-
senchymoma, infantile osteochondroma, and infantile cartilaginous
hamartoma.96–100 Though the lesions are typically benign, malignant
transformation has been reported and death may occur from respiratory
compromise due to mass effect. 95–108 MHCW present most commonly
as single lesions on the right side, though multiple bilateral and ipsi-
lateral cases have been reported.98,100–102 Arising from the central
portions of one or several ribs, radiological findings classically show
osseous expansion with an associated extrapleural soft-tissue mass with
variable cartilaginous-type mineralization and oftentimes secondary
aneurysmal bone cyst (ABC)-like changes.101
Histologically, the lesion is composed of a disordered collection of
cartilage, smooth muscle, and respiratory epithelium with a bland
spindled mesenchymal cell stroma. The cartilage can be variably cel-
lular, but typically matures into trabecular bone mimicking a growth
plate. Mitotic figures are not seen, but osteoclast-like giant cells may be
seen adjacent to the ABC-like areas.102
Cutaneous hamartomas/choristomas
Nevus sebaceus of Jadassohn
Nevus sebaceus of Jadassohn (NSJ) is a benign congenital cutaneous
hamartoma classically arising on the head and neck. Loss of hetero-
zygosity in the PTCH gene has been described, but follow-up studies
have failed to confirm this.109,110 Alterations in the MAPK and PI3K-Akt
signaling pathways have been identified in the form of HRAS and KRAS
mutations.110,111 Familial inheritance has been described with auto-
somal dominant and paradominant patterns.112–114 Uncommonly, NSJ
accompanies systemic symptoms (particularly neurologic)115 and may
be a feature of a systemic syndrome (e.g. Schimmelpenning).110
The lesion is hormonally responsive and may not become clinically
apparent until puberty;most tumors are removed in adulthood.116
Prepubertal lesions demonstrate a smooth, waxy surface which be-
comes variegated and verrucoid after puberty, probably due to lesional
response to hormonal stimuli. Histologically, it is a broad lesion with a
papillomatous surface (Fig. 12). Sebaceous glands are prominent after
puberty and terminal hairs are conspicuously absent in the subcutis.
Disordered and abortive growth of follicular structures is a frequent
finding (Fig. 13). Complete excision is curative, but the lesion may
recur if not completely excised.
Benign and malignant tumors of the epidermis and cutaneous ad-
nexa are frequently identified in association with or arising from nevus
sebaceus. Multiple large retrospective studies have identified the most
common benign and malignant tumors arising in NSJ. The most fre-
quently encountered benign lesions include syringocystadenoma pa-
pilliferum (2.7–5.2% of all tumors) and trichoblastoma (1.6–7.4% of all
tumors). Basal cell carcinoma is the most frequently identified malig-
nant lesion associated with NSJ and is found in 0.8–1.2% of all tu-
mors.116–118 Uncommonly, other malignancies may arise in association
with NSJ and include squamous cell carcinoma, sebaceous carcinoma,
and microcystic adnexal carcinoma.116,117 Multiple secondary neo-
plasms have been reported arising in NSJ (one case reported 8 separate
secondary tumors arising in a solitary NSJ).119
Folliculosebaceous cystic hamartoma
Folliculosebaceous cystic hamartoma (FSCH) is another uncommon
B.J. Tjarks et al. Seminars in Diagnostic Pathology 36 (2019) 48–61

Fig. 8. Vascular malformation. This case from a patient with Klippel-Trénaunay syndrome shows multiple large disorganized dilated venous channels as well as many
small capillaries and venules in the adjacent subcutis. H&E; 13x magnification.

cutaneous hamartoma with components of the hair follicle, sebaceous
unit, and adventitia (the specialized mesenchyme that surrounds hair
follicles).120,121 Clinically, the lesions are indistinct. Most often they
present as flesh-colored dome-shaped papules or nodules on the face
(71%; most often around the nose) in the 6th decade with a slight male
predominance.122,123 The lesions are sporadic and no specific genetic
alteration has been identified.
Microscopically, FSCH is characterized by a dermal-based in-
fundibular type cyst with sebaceous lobules and ducts emptying into
the cystic space.124 Mature and abortive hair follicles may also be
present. The compact, fibrillary stroma is characteristic and surrounds
the epithelial component with prominent clefting. Other mesenchymal
elements, including vascular, neural, and adipocytic components may
be present.121,124,125 Occasional association with benign melanocytic
nevi have also been reported. Some tumors may extend into the sub-
cutaneous adipose tissue, but most are confined to the dermis.
The primary histologic differential diagnosis includes trichofollicu-
loma, fibrofolliculoma, and dermoid cyst. In fact, some authors have
contested FSCH is actually a late stage trichofolliculoma and the pre-
sence of sebaceous glands represented cyclical regression of the folli-
cular structures.126–128 Recently, though, this has been contested as the
hair cycle in trichofolliculoma is disordered and does not follow the
expected chronologic changes seen in normal hairs.129,130 Additionally,
cases of congenital FSCH have been reported which would support the
lesions being separate and distinct entities.131,132
Cutaneous neurocristic hamartoma
Neurocristic hamartoma (NCH) is an extremely uncommon pig-
mented lesion of neural crest origin.133 The tumor is comprised of cells
with melanocytic, schwannian, and pigmented dendritic cell differ-
entiation and immunophenotype and may occur as a congenital or

Fig. 9. Vascular malformation (same lesion as Fig. 8). The large venous channels have a muscular wall (left). Both the large channels and the small background
vessels (right) are lined by a bland single layer of endothelium. H&E; 146x magnification.

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B.J. Tjarks et al.
Fig. 10. Lymphatic malformation. Numerous dilated thin-walled lymphatic
channels are interspersed in the subcutaneous adipose tissue. H&E; 5x magni-
fication.
acquired lesion. Most cases occur as plaques on the scalp or trunk. The
majority are dermal-based and extend into the soft tissue with epi-
dermal sparing.134 Histologically, it is heterogeneously composed of a
diffuse infiltrate of pigmented dendritic cells, melanocytes, schwann
cells, and spindle cells in a fibromyxoid stroma (Fig. 14). Redundant
nerve fascicles have also been described.134,135 The lesional cells often
infiltrate around cutaneous adnexal structures and hair follicles may be
lost (Fig. 15).134,136 Invasion into skeletal muscle, bone, and deep soft
tissues has been described.137–139 There is a clear risk for development
of melanoma in these lesions, but the true incidence is not
known.140–142 The primary histologic differential diagnosis includes
cellular blue nevus, combined nevus, neurofibroma, and melanoma.
Basaloid follicular hamartoma
Basaloid follicular hamartoma is an uncommon benign hamartoma
of the hair follicle with differentiation towards the follicular
Fig. 11. Lymphatic malformation (same lesion as Fig. 10). The lymphatic channels are lined by a single layer of bland endothelium and are filled with pink lymph
fluid. Lymphocytes are often present within the lymphatic lumens and/or as aggregates in adjacent soft tissue. H&E; 74x magnification.
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Seminars in Diagnostic Pathology 36 (2019) 48–61
infundibulum.143 Mutations in the PTCH gene on chromosome 9p23,
similar to that seen in nevoid basal cell carcinoma (Gorlin) syndrome,
have been implicated in tumor development; however, the magnitude
of gene expression is less in BFH than nevoid basal cell carcinoma
syndrome.144 A number of clinical presentations have been described
including solitary, localized (typically along lines of Blaschko), and
generalized skin-colored papules and plaques.145,146 Identification of
generalized BFH should prompt evaluation for numerous systemic
syndromes including Cowden syndrome, nevoid basal cell carcinoma
syndrome, Rombo syndrome, and others.147 Autosomal dominant in-
heritance and familial forms have been described.147,148
Histologically, the tumors are composed of anastomosing strands
and buds of basaloid epithelium with peripheral palisading (Fig. 16).
The tumors are often folliculocentric, but may arise from the epidermis,
and have a surrounding loose fibroblast-rich stroma (Fig. 17).148 The
primary histologic differential diagnosis includes basal cell carcinoma,
particularly the infundibulocystic type, and trichoepithelioma. How-
ever, BFH lacks the cytologic atypia, mitoses, and retraction artifact
typically attributed to BCC. CK20-positive Merkel cells are present
within the tumor and stromal cells are positive for CD34. The latter may
be more useful as infundibulocystic BCC often harbors CK20-positive
Merkel cells.149,150 Trichoepithelioma may show similar histologic
features, but it is primarily a dermal based tumor with horn cyst for-
mation, dense fibrous stroma, lack of clefting artifact, and presence of
papillary mesenchymal bodies.151,152
Connective tissue nevi
Connective tissue nevus (CTN) is a broad term ascribed to dermal
hamartomas derived from components of the connective tissue and
extracellular matrix (e.g. – collagen, fibroblasts, elastin, and pro-
teoglycans).153 CTN may be solitary, familial, acquired, or associated
with systemic syndromes. They are typically classified according to the
dominant component seen within the lesion (collagenoma, elastoma,
etc.).154
Collagenomas may be sporadic or associated with genetic disorders
(familial cutaneous collagenoma, tuberous sclerosus complex
[Shagreen patches are collagenomas], multiple endocrine neoplasia
type 1, Buschke-Ollendorff syndrome [BOS], and Proteus syndrome).153
Most often they arise as skin-colored or hypopigmented papules or
B.J. Tjarks et al. Seminars in Diagnostic Pathology 36 (2019) 48–61

Fig. 12. Nevus sebaceus of Jadassohn. Epidermal papillomatosis overlying abortive and disordered folliculosebaceous units and eccrine glands. Note the paucity of
terminal hairs within the dermis and subcutis. H&E; 10x magnification.

plaques on the trunk of children.155 Histologically, there are increased
and thickened dermal collagen bundles and decreased fibroblasts
within the reticular dermis.156 Diminished numbers of elastic fibers can
be seen with special stains.157 The histologic changes may be subtle and
could easily be confused with normal thick truncal dermis without the
appropriate clinical context.
Elastomas can be congenital or acquired, solitary or disseminated,
and are often associated with BOS (characterized by elastomas and
osteopoikilosis).158–160 The histologic features are once again subtle
and H&E stained slides may be unremarkable. Elastic special stains will
highlight irregularly dispersed and increased elastic tissue within the
reticular dermis.153
CTN with a predominant component of proteoglycans may similarly
show isolated or syndromic patterns. In Hunter syndrome (mucopoly-
saccharidosis II), the skin is generally thickened and numerous pale
papules (pebbling of the skin) can be seen on the torso and ex-
tremities.161–163 Biopsy of these lesions shows increased mucinous
material (glycosaminoglycans) deposited between collagen bundles.163
Acquired forms of proteoglycan-type CTN (lichen myxedematosus,
focal cutaneous mucinosis) show similar histologic findings.153
Special attention should be paid to fibroblastic connective tissue
nevi (FCTN) as most cases express CD34 and may be confused with
dermatofibrosarcoma protuberans or other CD34 positive tumors.
Described in 2012 by de Feraudy and Fletcher, FCTN is a hamartoma
which shows myofibroblastic/fibroblastic predominance.164,165 Clini-
cally the lesions typically arise in early childhood or adolescence as
slow-growing plaques or nodules on the trunk or head and neck.164
Histologically, they are dermal-based, unencapsulated lesions with ill-
defined margins and overlying epidermal papillomatosis (Fig. 18). The
lesions are composed of bland spindled cells arranged in fascicles or
bundles which spare the cutaneous adnexa (Fig. 19).164–166 Ultra-
structural analysis has confirmed the myofibroblastic lineage of the
spindle cells.165 Distinction of FCTN from DFSP is essential and may be
difficult if the entire lesion is not visualized. Classically DFSP has a
storiform pattern as opposed to the short fascicles seen in FCTN. Ad-
ditionally, the epidermal papillomatosis seen in FCTN is usually absent
in DFSP. FCTN typically invades the subcutis along the fibrous trabe-
culae where DFSP shows an irregular infiltration pattern.166 In trou-
blesome cases, molecular and cytogenetic studies may be helpful to
identify the t(17;22) COL1A1-PDGFB fusion associated with DFSP.

Fig. 13. Nevus sebaceus of Jadassohn (same lesion as Fig. 12). Abortive and disordered growth of folliculosebaceous units within the dermis. H&E; 100x magni-
fication.

54

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B.J. Tjarks et al. Seminars in Diagnostic Pathology 36 (2019) 48–61

Fig. 14. Cutaneous neurocristic hamartoma. Dermal proliferation of schwann cells, melanocytes, and pigmented dendritic cells with prominence around follicular
structures. H&E; 14x magnification.

Fig. 15. Cutaneous neurocristic hamartoma

(same lesion as Fig. 14). Dermal pigmented
dendritic cells, schwann cells, and melanocytes
in a prominent perifollicular distribution.
There may be significant morphologic overlap
with blue nevus. H&E; 100x magnification.
(For interpretation of the references to color in
this figure legend, the reader is referred to the
web version of this article.)

Fig. 16. Basaloid follicular hamartoma. Islands

of basaloid cells, some showing connection to
the overlying epidermis. This patient had many
similar longstanding lesions involving only the
left upper extremity, likely representing a
segmental variant of one of the multiple basa-
loid follicular hamartoma syndromes. H&E;
15x magnification.

Nevus lipomatosus superficialis tag”. The classical form presents with grouped polypoid growths over
the buttocks, upper thigh, and lower back; plaque-like and giant forms
Nevus lipomatosus superficialis (NLS) is a benign hamartomatous have also been described.167–169 Solitary NLS presents in similar loca-
growth which often clinically presents as a fleshy or polypoid “skin tions as a single polypoid lesion. Congenital cases have been described,

55

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B.J. Tjarks et al.
but most are acquired.170 Histologically it is characterized as an exo-
phytic growth with expansion of the superficial dermis by mature
adipose tissue. Often, the adipose tissue is prominently arranged around
superficial vessels. Some consider NLS to be a variant of connective
tissue nevus with adipose tissue predominance.171 The primary differ-
ential diagnosis includes acrochordon and lipoma. Acrochordons typi-
cally have a thin stalk and lack the mature adipose tissue of NLS.
Pedunculated lesions that resemble acrochordon but with abundant
adipose tissue are referred to by some as pedunculated lipofibroma
(essentially, a fatty variant of acrochordon) but by others as NLS. Li-
pomas are usually well circumscribed and present in the deep dermis/
subcutis.
Cutaneous ganglioneuroma
Ganglioneuroma, in its purest form, is a neural tumor of the sym-
pathetic nervous system arising in the adrenal gland, posterior med-
iastinum, or retroperitoneum. Cutaneous tumors are exceptional. The
majority of reported lesions present clinically as flesh-colored papules
arising on the trunk or extremities; many have overlying seborrheic
keratosis-like changes.172–174
Fig. 18. Fibroblastic connective tissue nevus. This excision from a 4-month-old shows epidermal papillomatosis overlying a dermal based proliferation of bundles and
fascicles of spindled fibroblasts. H&E; 10x magnification.
56
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Seminars in Diagnostic Pathology 36 (2019) 48–61
Fig. 17. Basaloid follicular hamartoma (same
lesion as Fig. 16). Nests and cords of basaloid
cells within loose fibroblastic stroma. The ab-
sence of mitotic figures, single cell necrosis,
and clefting artifact helps differentiate this le-
sion from basal cell carcinoma. In this case, the
unique clinical history was also very reassuring
for hamartoma rather than carcinoma. H&E;
168x magnification.
Histologically, the tumors are composed of spindled cells (schwann
cells) with admixed larger cells with abundant cytoplasm, large nuclei,
and prominent nucleoli (ganglion cells) (Figs. 20 and 21). A recent
study showed the tumors may have overlying Merkel cell hyper-
plasia.172 By immunohistochemistry the ganglion cells are positive for
S100 protein, GFAP, neuron specific enolase, neurofilament, and sy-
naptophysin. Exceedingly rarely, other cutaneous lesions may have
been reported with ganglion cells including metastatic neuroblastoma
(ganglioneuroblastoma) and ganglioneuromatous tumor of the skin.175
Proliferative fasciitis of the soft tissue has ganglion-like cells; the “owl's
eye” inclusions of CMV infection may also mimic ganglion cells. Al-
though cutaneous ganglioneuroma may be a neoplasm rather than true
heterotopic tissue, it is mentioned here because of its choristoma-like
histologic appearance.
Nasal glial heterotopia (Nasal “Glioma”)
Nasal glial heterotopia is an uncommon, developmental anomaly
characterized by nodules or masses composed of heterotopic glial
tissue. These lesions are felt to arise as a result of improper closure of
the neural tube leading during development leading to entrapment of
B.J. Tjarks et al. Seminars in Diagnostic Pathology 36 (2019) 48–61

Fig. 19. Fibroblastic connective tissue nevus (same lesion as Fig. 18). Fascicles of spindled fibroblasts proliferating in and around dermal collagen bundles. The
spindle cells are positive for CD34. H&E; 100x magnification.

Fig. 20. Cutaneous ganglioneuroma. The low power architecture of this lesion mimics that of a benign keratosis. Numerous schwann cells are present throughout the
superficial dermis. The background is loose and myxoid. H&E; 12x magnification.

Fig. 21. Cutaneous ganglioneuroma (same lesion as Fig. 20). Scattered ganglion
cells (large cell with granular cytoplasm, large nucleus and prominent nu-
cleolus) are interspersed among the dermal schwann cells. Note the nerve fibers
suspended in the loose background, as well. H&E; 200x magnification.
Fig. 22. Meningeal heterotopia. Low power view shows a dermal based pro-
liferation of spindled to epithelioid cells forming pseudovascular spaces. This
case was from the nasal dorsum of a child. H&E; 42x magnification.

57

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B.J. Tjarks et al.
Fig. 23. Meningeal heterotopia (same lesion as Fig. 22). Spindled to epithelioid
meningothelial cells form cords between dermal collagen bundles. Note the
cleft-like pseudovascular spaces, vaguely whorled architecture, and psammo-
matous calcification (far right). H&E; 278x magnification.
glial tissue. Most often these lesions appear around or within the nose,
but they may be seen in other facial locations.176–178 Patients may
present with hypertelorism.179 The majority are recognized in infancy
or early childhood, but cases have been reported in adults.176,180 Ap-
proximately 20% of tumors communicate with the frontal lobe and
imaging is necessary to evaluate for this possibility.181 Excision is
curative.
Histologic examination demonstrates relatively normal to reactive
appearing neurons and glial tissue situated in the dermis.176 Glial cells
may be difficult to characterize, especially if there is a prominent in-
flammatory component. However, the presence of gemistocytes and
multinucleate cells encourage the diagnosis. Glial fibrillary acidic pro-
tein (GFAP) will be positive throughout the lesion and neurofilament
protein will highlight neuronal elements.182
Meningeal heterotopia (cutaneous meningioma)
The term cutaneous meningioma has been used to describe het-
erotopic meningeal tissue, however, the “-oma” designation implies a
neoplastic process, so we prefer to utilize the term meningeal hetero-
topia. In the mid 1970′s, the Armed Forces Institute of Pathology (AFIP)
classified meningeal heterotopias into three groups. Type I lesions (also
called meningothelial hamartomas) are primary cutaneous, congenital
type lesions, typically found around the vertebra and scalp. They are
thought to develop as a result from failure of closure of the neural tube
and most likely represent a form of rudimentary mengingocele, similar
to nasal glial heterotopia.183–187 Type II lesions are generally en-
countered in adults and arise primarily in soft tissue with extension into
the skin. They are most frequently encountered around the central face
(eyes, nose, mouth) and ears.184,185,188 While the etiology of type II
lesions is not clear, some have suggested they arise from arachnoid cell
remnants which extend along cranial nerves.185,188 Type III lesions
arise from the dura and involve the skin through direct extension or
metastatic spread.185
Histologically, type I lesions are characterized by nests of me-
ningothelial cells with occasional psammomatous calcifications
(Fig. 22). They often have pseudovascular spaces within a collagenous
stroma, lined by meningothelial cells (Fig. 23).189 Cytologic atypia is
not a feature and mitoses are uncommon.179 Type II lesions are com-
posed of nests and sheets of spindled to epithelioid cells arising in soft
tissue and extending into the dermis. There may be a distinctive
whorled architecture which, in some cases, may mimic cellular neu-
rothekeoma. Nuclear pseudoinclusions are a helpful feature. Type III
lesions are histologically similar to meningiomas of the central nervous
system and show whorled to storiform sheets and nests of
58
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Seminars in Diagnostic Pathology 36 (2019) 48–61
meningothelial cells. Psammomatous calcifications are often seen.
There is often a connection to the underlying dura. Direct extension into
the skin alone by a dural-based meningioma is not enough to upgrade a
WHO grade I tumor. However, if other histologic features of a higher
grade lesion are present (increased mitoses, atypia, necrosis, etc.), a
grade II or III tumor should be considered. Meningothelial cells are
consistently positive for epithelial membrane antigen (EMA) by im-
munohistochemistry. P63 positivity has been reported and may be a
pitfall if metastatic carcinoma is a diagnostic consideration.188
References
1. Haydeh G, Massoud A, Pedram N. Multiple smooth muscle hamartoma: case report
and review of the literature. Indian J Dermatol. 2009;54(1):68–71.
2. Louhimo I, Rapola J. Intraneural muscular hamartoma: report of two cases in small
children. J Pediatr Surg. 1972;7(6):696–699.
3. Bonneau R, Brochu P. Neuromuscular choristoma. A clinicopathologic study of two
cases. Am J Surg Pathol. 1983;7(6):521–528.
4. Markel SF, Enzinger FM. Neuromuscular hamartoma–a benign "triton tumor" com-
posed of mature neural and striated muscle elements. Cancer. 1982;49(1):140–144.
5. Chen KT. Neuromuscular hamartoma. J Surg Oncol. 1984;26(3):158–160.
6. Awasthi D, Kline DG, Beckman EN. Neuromuscular hamartoma (benign "triton"
tumor) of the brachial plexus. Case report. J Neurosurg. 1991;75(5):795–797.
7. Mitchell A, Scheithauer BW, Ostertag H, Sepehrnia A, Sav A. Neuromuscular
choristoma. Am J Clin Pathol. 1995;103(4):460–465.
8. Van Dorpe J, Sciot R, De Vos R, Uyttebroeck A, Stas M, Van Damme B.
Neuromuscular choristoma (hamartoma) with smooth and striated muscle compo-
nent: case report with immunohistochemical and ultrastructural analysis. Am J Surg
Pathol. 1997;21(9):1090–1095.
9. Kusuzaki K, Emoto K, Murata H, et al. Nerve contact with muscle component in
neuromuscular hamartoma. Anticancer Res. 2000;20(5c):3807–3811.
10. Lai PH, Ho JT, Lin SL, et al. Neuromuscular hamartoma arising in the brachial
plexus. Neuroradiology. 2004;46(3):216–218.
11. Zwick DL, Livingston K, Clapp L, Kosnik E, Yates A. Intracranial trigeminal nerve
rhabdomyoma/choristoma in a child: a case report and discussion of possible his-
togenesis. Hum Pathol. 1989;20(4):390–392.
12. Lena G, Dufour T, Gambarelli D, Chabrol B, Mancini J. Choristoma of the in-
tracranial maxillary nerve in a child. Case report. J Neurosurg. 1994;81(5):788–791.
13. Vajramani G, Devi I, Santosh V, et al. Benign triton tumor of the trigeminal nerve.
Child's Nerv Syst. 1999;15(2-3):140–144.
14. Castro DE, Raghuram K, Phillips CD. Benign triton tumor of the trigeminal nerve.
AJNR Am J Neuroradiol. 2005;26(4):967–969.
15. Tobias S, Kim CH, Sade B, Staugaitis SM, Lee JH. Neuromuscular hamartoma of the
trigeminal nerve in an adult. Acta Neurochir. 2006;148(1):83–87 discussion 87.
16. Vandewalle G, Brucher JM, Michotte A. Intracranial facial nerve rhabdomyoma.
Case report. J Neurosurg. 1995;83(5):919–922.
17. Smith MM, Thompson JE, Thomas D, et al. Choristomas of the seventh and eighth
cranial nerves. AJNR Am J Neuroradiol. 1997;18(2):327–329.
18. Owor G, Qian J, Payner T, Martin A, Shan Y. Intracranial neuromuscularchoristoma:
a case report and literature review. Ear Nose Throat J. 2004;83(8):544 546, 548
passim.
19. Karagama YG, Bridges LR, van Hille PT. Neuromuscular hamartoma of the cochlear
nerve: a rare occurrence in the internal auditory meatus. Eur Arch Oto-Rhino-
Laryngol. 2002;259(3):119–120.
20. Giannini C, Reynolds C, Leavitt JA, et al. Choristoma of the optic nerve: case report.
Neurosurgery. 2002;50(5):1125–1128.
21. Menovsky T, Grotenhuis JA, de Vries J, Bartels RH. Endoscope-assisted supraorbital
craniotomy for lesions of the interpeduncular fossa. Neurosurgery.
1999;44(1):106–110 discussion 110-102.
22. Lee JI, Nam DH, Kim JS, et al. Intracranial oculomotor nerve rhabdomyoma. J
Neurosurg. 2000;93(4):715.
23. Kawamoto S, Matsuda H, Ueki K, Okada Y, Kim P. Neuromuscular choristoma of the
oculomotor nerve: case report. Neurosurgery. 2007;60(4):E777–E778 discussion
E778.
24. Gersdorff MC, Decat M, Duprez T. Neuromuscular hamartoma of the internal au-
ditory canal. Eur Arch Oto-Rhino-Laryngol. 1996;253(7):440–442.
25. Tiffee JC, Barnes EL. Neuromuscular hamartomas of the head and neck. Arch
Otolaryngol – Head Neck Surg. 1998;124(2):212–216.
26. Oeppen RS, Harden SP, Argent JD. Neuromuscular hamartoma: imaging features of
a rare paediatric craniofacial tumour. Pediatr Radiol. 2003;33(1):50–52.
27. Uysal A, Sungur N, Kocer U, Cologlu H, Oruc M, Yalta T. Neuromuscular hamartoma
of the occipital nerve: clinical report. J Craniofac Surg. 2005;16(4):740–742.
28. Vajtai I, Varga Z, Hackel J. [Neuromuscular choristoma]. Orvosi hetilap.
1999;140(31):1743–1746.
29. O'Connell JX, Rosenberg AE. Multiple cutaneous neuromuscular choristomas.
Report of a case and a review of the literature. Am J Surg Pathol. 1990;14(1):93–96.
30. Demir Y, Uluoglu O, Ozmen S, Boyacioglu ZM, Atabay K. Neuromuscular ha-
martoma in the mental region. J Oral Maxillofac Surg. 2003;61(3):397–400.
31. Boman F, Palau C, Floquet A, Floquet J, Lascombes P. [Neuromuscular hamartoma].
Ann Pathol. 1991;11(1):36–41.
32. Bassett GS, Monforte-Munoz H, Mitchell WG, Rowland JM. Cavus deformity of the
foot secondary to a neuromuscular choristoma (hamartoma) of the sciatic nerve. A
B.J. Tjarks et al.
case report. J Bone Jt. Surg Am. 1997;79(9):1398–1401.
33. Maher CO, Spinner RJ, Giannini C, Scheithauer BW, Crum BA. Neuromuscular
choristoma of the sciatic nerve. Case report. J Neurosurg. 2002;96(6):1123–1126.
34. Kim SY, Kwon HP, Kwak KD, Ahn KB. Neuromuscular choristoma of the sciatic
nerve: a case report. Korean J Pathol. 2005;39(3):192–196.
35. Sahn EE, Garen PD, Pai GS, Levkoff AH, Hagerty RC, Maize JC. Multiple rhabdo-
myomatous mesenchymal hamartomas of skin. Am J Dermatopathol.
1990;12(5):485–491.
36. Hendrick SJ, Sanchez RL, Blackwell SJ, Raimer SS. Striated muscle hamartoma:
description of two cases. Pediatr Dermatol. 1986;3(2):153–157.
37. Antonescu CR, Scheithauer BW, Woodruff JM. Tumors of the Peripheral Nervous
System. fourth ed. Silver Spring, MD: American Registry of Pathology; 2013.
38. Spinner RJ, Scheithauer BW, Amrami KK, Wenger DE, Hebert-Blouin MN. Adipose
lesions of nerve: the need for a modified classification. J Neurosurg.
2012;116(2):418–431.
39. Prasad NK, Mahan MA, Howe BM, Amrami KK, Spinner RJ. A new pattern of li-
pomatosis of nerve: case report. J Neurosurg. 2017;126(3):933–937.
40. Atherton D, Moss C. Naevi and other developmental defects. Rook's Textbook of
Dermatology. Blackwell: John Wiley and Sons; 2004:569–682. https://books.google.
com/books/about/Rook_s_Textbook_of_Dermatology.html?id=EyypCwAAQBAJ&
printsec=frontcover&source=kp_read_button
41. Gagne EJ, Su WP. Congenital smooth muscle hamartoma of the skin. Pediatr
Dermatol. 1993;10(2):142–145.
42. Zvulunov A, Rotem A, Merlob P, Metzker A. Congenital smooth muscle hamartoma.
Prevalence, clinical findings, and follow-up in 15 patients. Am J Dis Child.
1990;144(7):782–784.
43. Guillot B, Huet P, Joujoux JM, Lorette G. [Multiple congenital smooth-muscle ha-
martomas]. Ann Dermatol Venereol. 1998;125(2):118–120.
44. Viglizzo G, Nemelka O, Nozza P, Occella C, Rongioletti F. Congenital smooth muscle
hamartoma presenting with an unusual pseudo-Darier's sign. Clin Exp Dermatol.
2006;31(1):148–149.
45. Hsiao GH, Chen JS. Acquired genital smooth-muscle hamartoma. A case report. Am
J Dermatopathol. 1995;17(1):67–70.
46. Gualandri L, Cambiaghi S, Ermacora E, Tadini G, Gianotti R, Caputo R. Multiple
familial smooth muscle hamartomas. Pediatr Dermatol. 2001;18(1):17–20.
47. Metzker A, Amir J, Rotem A, Merlob P. Congenital smooth muscle hamartoma of the
skin. Pediatr Dermatol. 1984;2(1):45–48.
48. Morales-Callaghan A, Vila JB, Cardenal EA, Bernier MA, Fraile HA, Miranda-
Romero A. Acquired cutaneous smooth muscle hamartoma. J Eur Acad Dermatol
Venereol. 2005;19(1):142–143.
49. Johnson MD, Jacobs AH. Congenital smooth muscle hamartoma. A report of six
cases and a review of the literature. Arch Dermatol. 1989;125(6):820–822.
50. Schnur RE, Herzberg AJ, Spinner N, et al. Variability in the Michelin tire syndrome.
A child with multiple anomalies, smooth muscle hamartoma, and familial para-
centric inversion of chromosome 7q. J Am Acad Dermatol. 1993;28(2 Pt 2):364–370.
51. Goldman MP, Kaplan RP, Heng MC. Congenital smooth-muscle hamartoma. Int J
Dermatol. 1987;26(7):448–452.
52. Jang HS, Kim MB, Oh CK, Kwon KS, Chung TA. Linear congenital smooth muscle
hamartoma with follicular spotted appearance. Br J Dermatol.
2000;142(1):138–142.
53. Grau-Massanes M, Raimer S, Colome-Grimmer M, Yen A, Sanchez RL. Congenital
smooth muscle hamartoma presenting as a linear atrophic plaque: case report and
review of the literature. Pediatr Dermatol. 1996;13(3):222–225.
54. Spencer JM, Amonette RA. Tumors with smooth muscle differentiation. Dermatol
Surg. 1996;22(9):761–768.
55. Berger TG, Levin MW. Congenital smooth muscle hamartoma. J Am Acad Dermatol.
1984;11(4 Pt 2):709–712.
56. Dickey GE, Sotelo-Avila C. Fibrous hamartoma of infancy: current review. Pediatr
Dev Pathol. 1999;2(3):236–243.
57. Fletcher CD, Powell G, van Noorden S, McKee PH. Fibrous hamartoma of infancy: a
histochemical and immunohistochemical study. Histopathology. 1988;12(1):65–74.
58. Saab ST, McClain CM, Coffin CM. Fibrous hamartoma of infancy: a clinicopathologic
analysis of 60 cases. Am J Surg Pathol. 2014;38(3):394–401.
59. Eppley BL, Harruff R, Shah M, Sadove AM. Fibrous hamartomas of the scalp in
infancy. Plast Reconstr Surg. 1994;94(1):195–197.
60. Robbins LB, Hoffman S, Kahn S. Fibrous hamartoma of infancy; case report. Plast
Reconstr Surg. 1970;46(2):197–200.
61. Jebson PJ, Louis DS. Fibrous hamartoma of infancy in the hand: a case report. J
Hand Surg. 1997;22(4):740–742.
62. Stensby JD, Conces MR, Nacey NC. Benign fibrous hamartoma of infancy: a case of
MR imaging paralleling histologic findings. Skelet Radiol. 2014;43(11):1639–1643.
63. Reye RD. A consideration of certain subdermal fibromatous tumours of infancy. J
Pathol Bacteriol. 1956;72(1):149–154.
64. Enzinger FM. Fibrous hamartoma of infancy. Cancer. 1965;18:241–248.
65. Sotelo-Avila C, Bale PM. Subdermal fibrous hamartoma of infancy: pathology of 40
cases and differential diagnosis. Pediatr Pathol. 1994;14(1):39–52.
66. Han HJ, Lim GY, You CY. A large infiltrating fibrous hamartoma of infancy in the
abdominal wall with rare associated tuberous sclerosis. Pediatr Radiol.
2009;39(7):743–746.
67. Imaji R, Goto T, Takahashi Y, Akiyama T, Yamadori I. A case of recurrent and
synchronous fibrous hamartoma of infancy. Pediatr Surg Int. 2005;21(2):119–120.
68. McGowan J, Smith CD, Maize Jr J, Cook J. Giant fibrous hamartoma of infancy: a
report of two cases and review of the literature. J Am Acad Dermatol.
2011;64(3):579–586.
69. Ritchie EL, Gonzalez-Crussi F, Zaontz MR. Fibrous hamartoma of infancy mas-
querading as a rhabdomyosarcoma of the spermatic cord. J Urol.
59
Descargado para Andrés Wunderwald (respaldoawy@gmail.com) en Valparaiso University de ClinicalKey.es por Elsevier en enero 17, 2024. Para
uso personal exclusivamente. No se permiten otros usos sin autorización. Copyright ©2024. Elsevier Inc. Todos los derechos reservados.
Seminars in Diagnostic Pathology 36 (2019) 48–61
1988;140(4):800–801.
70. Al-Ibraheemi A, Martinez A, Weiss SW, et al. Fibrous hamartoma of infancy: a
clinicopathologic study of 145 cases, including 2 with sarcomatous features. Mod
Pathol. 2017;30(4):474–485.
71. Lakshminarayanan R, Konia T, Welborn J. Fibrous hamartoma of infancy: a case
report with associated cytogenetic findings. Arch Pathol Lab Med.
2005;129(4):520–522.
72. Rougemont AL, Fetni R, Murthy S, Fournet JC. A complex translocation (6;12;8)
(q25;q24.3;q13) in a fibrous hamartoma of infancy. Cancer Genet Cytogenet.
2006;171(2):115–118.
73. Tassano E, Nozza P, Tavella E, Garaventa A, Panarello C, Morerio C. Cytogenetic
characterization of a fibrous hamartoma of infancy with complex translocations.
Cancer Genet Cytogenet. 2010;201(1):66–69.
74. Park JY, Cohen C, Lopez D, Ramos E, Wagenfuehr J, Rakheja D. EGFR Exon 20
insertion/duplication mutations characterize fibrous hamartoma of infancy. Am J
Surg Pathol. 2016;40(12):1713–1718.
75. Agaram NP, Zhang L, Sung YS, et al. Recurrent NTRK1 gene fusions define a novel
subset of locally aggressive lipofibromatosis-like neural tumors. Am J Surg Pathol.
2016;40(10):1407–1416.
76. Fetsch JF, Miettinen M, Laskin WB, Michal M, Enzinger FM. A clinicopathologic
study of 45 pediatric soft tissue tumors with an admixture of adipose tissue and
fibroblastic elements, and a proposal for classification as lipofibromatosis. Am J Surg
Pathol. 2000;24(11):1491–1500.
77. Coffin CM. Lipoblastoma: an embryonal tumor of soft tissue related to organogen-
esis. Semin Diagn Pathol. 1994;11(2):98–103.
78. Thway K, Gibson S, Ramsay A, Sebire NJ. Beta-catenin expression in pediatric fi-
broblastic and myofibroblastic lesions: a study of 100 cases. Pediatr Dev Pathol.
2009;12(4):292–296.
79. Keasbey LE. Juvenile aponeurotic fibroma (calcifying fibroma); a distinctive tumor
arising in the palms and soles of young children. Cancer. 1953;6(2):338–346.
80. Puls F, Hofvander J, Magnusson L, et al. FN1-EGF gene fusions are recurrent in
calcifying aponeurotic fibroma. J Pathol. 2016;238(4):502–507.
81. Adem C, Gisselsson D, Dal Cin P, Nascimento AG. ETV6 rearrangements in patients
with infantile fibrosarcomas and congenital mesoblastic nephromas by fluorescence
in situ hybridization. Mod Pathol. 2001;14(12):1246–1251.
82. Hao J, Diao QC, Wang SP, Liang CP, Shi BJ. Rhabdomyomatous mesenchymal ha-
martoma: case report and literature review. Int J Dermatol. 2015;54(10):1183–1185.
83. Dal Vechio A, Nakajima E, Pinto Jr D, Azevedo LH, Migliari DA. Rhabdomyomatous
(mesenchymal) hamartoma presenting as haemangioma on the upper lip: a case
report with immunohistochemical analysis and treatment with high-power lasers.
Case Rep Dent. 2013;2013:943953.
84. Read RW, Burnstine M, Rowland JM, Zamir E, Rao NA. Rhabdomyomatous me-
senchymal hamartoma of the eyelid: report of a case and literature review.
Ophthalmology. 2001;108(4):798–804.
85. Ball EA, McGrath EJ, Chong H, Moss AL. Rhabdomyomatous mesenchymal ha-
martoma resembling scleroderma 'en coup de sabre': a case report and literature
review. Br J Dermatol. 2010;162(1):222–224.
86. Mills AE. Rhabdomyomatous mesenchymal hamartoma of skin. Am J Dermatopathol.
1989;11(1):58–63.
87. Ashfaq R, Timmons CF. Rhabdomyomatous mesenchymal hamartoma of skin.
Pediatr Pathol. 1992;12(5):731–735.
88. Mitchell EL, Taylor GI, Houseman ND, Mitchell PJ, Breidahl A, Ribuffo D. The
angiosome concept applied to arteriovenous malformations of the head and neck.
Plast Reconstr Surg. 2001;107(3):633–646.
89. Werner JA, Dünne A-A, Folz B, et al. Current concepts in the classification, diagnosis
and treatment of hemangiomas and vascular malformations of the head and neck.
Eur Arch Oto-Rhino-Laryngol. 2001;258(3):141–149.
90. Mulliken J, Zetter B, Folkman J. In vitro characteristics of endothelium from he-
mangiomas and vascular malformations. Surgery. 1982;92(2):348–353.
91. Girard C, Graham JH, Johnson WC. Arteriovenous hemangioma (arteriovenous
shunt). A clinicopathological and histochemical study. J Cutan Pathol.
1974;1(2):73–87.
92. Gampper TJ, Morgan RF, Bartlett SP. Vascular anomalies: hemangiomas. Plast
Reconstr Surg. 2002;110(2):572–586.
93. Chang J, Most D, Bresnick S, et al. Proliferative hemangiomas: analysis of cytokine
gene expression and angiogenesis. Plast Reconstr Surg. 1999;103(1):1–9 discus-
sion 10.
94. Jang Y-C, Arumugam S, Ferguson M, Gibran NS, Isik FF. Changes in matrix com-
position during the growth and regression of human hemangiomas. J Surg Res.
1998;80(1):9–15.
95. McLeod RA, Dahlin DC. Hamartoma (mesenchymoma) of the chest wall in infancy.
Radiology. 1979;131(3):657–661.
96. Pawel BR, Crombleholme TM. Mesenchymal hamartoma of the chest wall. Pediatr
Surg Int. 2006;22(4):398–400.
97. Sodhi KS, Aiyappan SK, Menon P, Dey P, Khandelwal N. Unilateral multifocal me-
senchymal hamartoma of the chest wall: a case report and review of literature. J
Pediatr Surg. 2009;44(2):464–467.
98. Eskelinen M, Kosma VM, Vainio J. Mesenchymoma of the chest wall in children.
Ann Thorac Surg. 1991;52(2):291–293.
99. Tsuji Y, Maeda K, Tazuke Y, Ono S, Yanagisawa S. Mesenchymal hamartoma of the
bilateral chest wall in neonates. Pediatr Surg Int. 2012;28(9):939–942.
100. Lisle DA, Ault DJ, Earwaker JW. Mesenchymal hamartoma of the chest wall in
infants: report of three cases and literature review. Aust Radiol. 2003;47(1):78–82.
101. Groom KR, Murphey MD, Howard LM, Lonergan GJ, Rosado-De-Christenson ML,
Torop AH. Mesenchymal hamartoma of the chest wall: radiologic manifestations
with emphasis on cross-sectional imaging and histopathologic comparison.
B.J. Tjarks et al.
Radiology. 2002;222(1):205–211.
102. Serrano-Egea A, Santos-Briz A, Garcia-Munoz H, Martinez-Tello FJ. Chest wall ha-
martoma. Report of two cases with secondary aneurysmal bone cysts. Pathol Res
Pract. 2001;197(12):835–839.
103. Cameron D, Ong TH, Borzi P. Conservative management of mesenchymal ha-
martomas of the chest wall. J Pediatr Surg. 2001;36(9):1346–1349.
104. Odaka A, Takahashi S, Tanimizu T, et al. Chest wall mesenchymal hamartoma as-
sociated with a massive fetal pleural effusion: a case report. J Pediatr Surg.
2005;40(5):e5–e7.
105. Freeburn AM, McAloon J. Infantile chest hamartoma–case outcome aged 11. Arch
Dis Child. 2001;85(3):244–245.
106. Ozbudak IH, Dertsiz L, Bassorgun CI, Ozbilim G. Giant cystic chondroid hamartoma
of the lung. J Pediatr Surg. 2008;43(10):1909–1911.
107. Hedlund GL, Bisset GS, 3rd, Bove KE. Malignant neoplasms arising in cystic ha-
martomas of the lung in childhood. Radiology. 1989;173(1):77–79.
108. Basile A, Gregoris A, Antoci B, Romanelli M. Malignant change in a benign pul-
monary hamartoma. Thorax. 1989;44(3):232–233.
109. Xin H, Matt D, Qin JZ, Burg G, Boni R. The sebaceous nevus: a nevus with deletions
of the PTCH gene. Cancer Res. 1999;59(8):1834–1836.
110. Groesser L, Herschberger E, Ruetten A, et al. Postzygotic HRAS and KRAS mutations
cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet.
2012;44(7):783–787.
111. Levinsohn JL, Tian LC, Boyden LM, et al. Whole-exome sequencing reveals somatic
mutations in HRAS and KRAS, which cause nevus sebaceus. J Investig Dermatol.
2013;133(3):827–830.
112. Hughes SM, Wilkerson AE, Winfield HL, Hiatt KM. Familial nevus sebaceus in di-
zygotic male twins. J Am Acad Dermatol. 2006;54(2 Suppl):S47–S48.
113. Happle R, Konig A. Familial naevus sebaceus may be explained by paradominant
transmission. Br J Dermatol. 1999;141(2):377.
114. West C, Narahari S, Kwatra S, Feldman S. Autosomal dominant transmission of
nevus sebaceous of Jadassohn. Dermatol Online J. 2012;18(11):17.
115. Davies D, Rogers M. Review of neurological manifestations in 196 patients with
sebaceous naevi. Aust J Dermatol. 2002;43(1):20–23.
116. Idriss MH, Elston DM. Secondary neoplasms associated with nevus sebaceus of
Jadassohn: a study of 707 cases. J Am Acad Dermatol. 2014;70(2):332–337.
117. Hsu MC, Liau JY, Hong JL, et al. Secondary neoplasms arising from nevus sebaceus:
a retrospective study of 450 cases in Taiwan. J Dermatol. 2016;43(2):175–180.
118. Cribier B, Scrivener Y, Grosshans E. Tumors arising in nevus sebaceus: a study of
596 cases. J Am Acad Dermatol. 2000;42(2 Pt 1):263–268.
119. Liu Y, Valdebran M, Chen J, Elbendary A, Wu F, Xu M. Nevus sebaceous of
Jadassohn with eight secondary tumors of follicular, sebaceous, and sweat gland
differentiation. Am J Dermatopathol. 2016;38(11):861–866.
120. Kimura T, Miyazawa H, Aoyagi T, Ackerman AB. Folliculosebaceous cystic ha-
martoma. A distinctive malformation of the skin. Am J Dermatopathol.
1991;13(3):213–220.
121. Templeton SF. Folliculosebaceous cystic hamartoma: a clinical pathologic study. J
Am Acad Dermatol. 1996;34(1):77–81.
122. Ansai S, Kimura T, Kawana S. A clinicopathologic study of folliculosebaceous cystic
hamartoma. Am J Dermatopathol. 2010;32(8):815–820.
123. Suarez-Penaranda JM, Vieites B, Ramirez-Santos A, et al. Clinicopathological and
immnuohistochemical findings in a series of folliculosebaceous cystic hamartoma. J
Cutan Pathol. 2009;36(2):251–256.
124. Ramdial PK, Chrystal V, Madaree A. Folliculosebaceous cystic hamartoma.
Pathology. 1998;30(2):212–214.
125. Selcuk OT, Osma U, Suren D, Eyigor H, Yilmaz D, Sezer C. Nasal folliculosebaceous
hamartoma with vascular-mesenchymal overgrowth in an infant. J Cranio-Maxillo-
Facial Surg. 2013;41(3):242–244.
126. Schulz T, Hartschuh W. Folliculo-sebaceous cystic hamartoma is a trichofolliculoma
at its very late stage. J Cutan Pathol. 1998;25(7):354–364.
127. Schulz T, Hartschuh W. The trichofolliculoma undergoes changes corresponding to
the regressing normal hair follicle in its cycle. J Cutan Pathol. 1998;25(7):341–353.
128. Wu YH. Folliculosebaceous cystic hamartoma or trichofolliculoma? A spectrum of
hamartomatous changes inducted by perifollicular stroma in the follicular epithe-
lium. J Cutan Pathol. 2008;35(9):843–848.
129. Misago N, Ansai SI, Fukumoto T, Anan T, Kimura T, Nakao T. Chronological
changes in trichofolliculoma: Folliculosebaceous cystic hamartoma is not a very-
late-stage trichofolliculoma. J Dermatol. 2017;44(9):1050–1054.
130. Misago N, Kimura T, Toda S, Mori T, Narisawa Y. A revaluation of folliculosebac-
eous cystic hamartoma: the histopathological and immunohistochemical features.
Am J Dermatopathol. 2010;32(2):154–161.
131. El-Darouty MA, Marzouk SA, Abdel-Halim MR, El-Komy MH, Mashaly HM.
Folliculo-sebaceous cystic hamartoma. Int J Dermatol. 2001;40(7):454–457.
132. Cole P, Kaufman Y, Dishop M, Hatef DA, Hollier L. Giant, congenital folliculose-
baceous cystic hamartoma: a case against a pathogenetic relationship with tricho-
folliculoma. Am J Dermatopathol. 2008;30(5):500–503.
133. Tuthill RJ, Clark Jr WH, Levene A. Pilar neurocristic hamartoma: its relationship to
blue nevus and equine melanotic disease. Arch Dermatol. 1982;118(8):592–596.
134. Smith KJ, Mezebish D, Williams J, Elgart ML, Skelton HG. The spectrum of neu-
rocristic cutaneous hamartoma: clinicopathologic and immunohistochemical study
of three cases. Ann Diagn Pathol. 1998;2(4):213–223.
135. Karamitopoulou-Diamantis E, Paredes B, Vajtai I. Cutaneous neurocristic ha-
martoma with blue naevus-like features and plexiform dermal hyperneury.
Histopathology. 2006;49(3):326–328.
136. Wilson LM, Beasley KJ, Sorrells TC, Johnson VV. Congenital neurocristic cutaneous
hamartoma with poliosis: a case report. J Cutan Pathol. 2017;44(11):974–977.
137. Bevona C, Tannous Z, Tsao H. Dermal melanocytic proliferation with features of a
60
Descargado para Andrés Wunderwald (respaldoawy@gmail.com) en Valparaiso University de ClinicalKey.es por Elsevier en enero 17, 2024. Para
uso personal exclusivamente. No se permiten otros usos sin autorización. Copyright ©2024. Elsevier Inc. Todos los derechos reservados.
Seminars in Diagnostic Pathology 36 (2019) 48–61
plaque-type blue nevus and neurocristic hamartoma. J Am Acad Dermatol.
2003;49(5):924–929.
138. Denlinger CE, Slingluff Jr CL, Mihm Jr MC, Patterson JW. Extensive neurocristic
hamartoma with skeletal muscle involvement. J Cutan Pathol. 2007;34(8):634–639.
139. Conrad DM, Chaplin A, Walsh NM, Pasternak S. Extensive neurocristic hamartoma
with bone marrow involvement. Am J Dermatopathol. 2010;32(5):486–488.
140. Linskey KR, Dias-Santagata D, Nazarian RM, et al. Malignant neurocristic ha-
martoma: a tumor distinct from conventional melanoma and malignant blue nevus.
Am J Surg Pathol. 2011;35(10):1570–1577.
141. Pathy AL, Helm TN, Elston D, Bergfeld WF, Tuthill RJ. Malignant melanoma arising
in a blue nevus with features of pilar neurocristic hamartoma. J Cutan Pathol.
1993;20(5):459–464.
142. Pearson JP, Weiss SW, Headington JT. Cutaneous malignant melanotic neurocristic
tumors arising in neurocristic hamartomas. A melanocytic tumor morphologically
and biologically distinct from common melanoma. Am J Surg Pathol.
1996;20(6):665–677.
143. Morohashi M, Sakamoto F, Takenouchi T, Hashimoto T, Tago O, Ito M. A case of
localized follicular hamartoma: an ultrastructural and immunohistochemical study.
J Cutan Pathol. 2000;27(4):191–198.
144. Grachtchouk V, Grachtchouk M, Lowe L, et al. The magnitude of hedgehog sig-
naling activity defines skin tumor phenotype. EMBO J. 2003;22(11):2741–2751.
145. Mills O, Thomas LB. Basaloid follicular hamartoma. Arch Pathol Lab Med.
2010;134(8):1215–1219.
146. Jain S, Khopkar U, Sakhiya J. Localized unilateral basaloid follicular hamartoma
along Blaschko's lines on face. Indian J Dermatol Venereol Leprol. 2018.
147. Patel AB, Harting MS, Smith-Zagone MJ, Hsu S. Familial basaloid follicular ha-
martoma: a report of one family. Dermatol Online J. 2008;14(4):14.
148. Wheeler Jr CE, Carroll MA, Groben PA, Briggaman RA, Prose NS, Davis DA.
Autosomal dominantly inherited generalized basaloid follicular hamartoma syn-
drome: report of a new disease in a North Carolina family. J Am Acad Dermatol.
2000;43(2 Pt 1):189–206.
149. Ramos-Ceballos FI, Pashaei S, Kincannon JM, Morgan MB, Smoller BR. Bcl-2, CD34
and CD10 expression in basaloid follicular hamartoma, vellus hair hamartoma and
neurofollicular hamartoma demonstrate full follicular differentiation. J Cutan
Pathol. 2008;35(5):477–483.
150. Honarpisheh H, Glusac EJ, Ko CJ. Cytokeratin 20 expression in basaloid follicular
hamartoma and infundibulocystic basal cell carcinoma. J Cutan Pathol.
2014;41(12):916–921.
151. Huang SH, Hsiao TF, Lee CC. Basaloid follicular hamartoma: a case report and re-
view of the literature. Kaohsiung J Med Sci. 2012;28(1):57–60.
152. Stanoszek LM, Wang GY, Harms PW. Histologic mimics of basal cell carcinoma.
Arch Pathol Lab Med. 2017;141(11):1490–1502.
153. Arora H, Falto-Aizpurua L, Cortes-Fernandez A, Choudhary S, Romanelli P.
Connective tissue nevi: a review of the literature. Am J Dermatopathol.
2017;39(5):325–341.
154. McCuaig CC, Vera C, Kokta V, et al. Connective tissue nevi in children: institutional
experience and review. J Am Acad Dermatol. 2012;67(5):890–897.
155. Saussine A, Marrou K, Delanoe P, et al. Connective tissue nevi: an entity revisited. J
Am Acad Dermatol. 2012;67(2):233–239.
156. Perez AD, Yu S, North JP. Multiple cutaneous collagenomas in the setting of mul-
tiple endocrine neoplasia type 1. J Cutan Pathol. 2015;42(11):791–795.
157. Khanna D, Goel K, Khurana N. Isolated plantar cerebriform collagenoma. Indian J
Dermatol Venereol Leprol. 2012;78(5):666.
158. Giro MG, Duvic M, Smith LT, et al. Buschke-Ollendorff syndrome associated with
elevated elastin production by affected skin fibroblasts in culture. J Investig
Dermatol. 1992;99(2):129–137.
159. Foo CC, Kumarasinghe SP. Juvenile elastoma: a forme fruste of the Buschke-
Ollendorff syndrome? Aust J Dermatol. 2005;46(4):250–252.
160. Brodbeck M, Yousif Q, Diener PA, Zweier M, Gruenert J. The Buschke-Ollendorff
syndrome: a case report of simultaneous osteo-cutaneous malformations in the
hand. BMC Res Notes. 2016;9:294.
161. Uitto J, Santa Cruz DJ, Eisen AZ. Connective tissue nevi of the skin. Clinical, ge-
netic, and histopathologic classification of hamartomas of the collagen, elastin, and
proteoglycan type. J Am Acad Dermatol. 1980;3(5):441–461.
162. Srinivas SM, Maganthi M, Sanjeev GN. Pebbling of skin: cutaneous marker of
Hunter syndrome. Indian Dermatol Online J. 2017;8(1):62–63.
163. Noh TK, Han JS, Won CH, et al. Characteristic "pebbling" skin eruption as a pre-
senting sign of Hunter syndrome. Int J Dermatol. 2014;53(12):e594–e596.
164. de Feraudy S, Fletcher CD. Fibroblastic connective tissue nevus: a rare cutaneous
lesion analyzed in a series of 25 cases. Am J Surg Pathol. 2012;36(10):1509–1515.
165. Velez MJ, Billings SD, Weaver JA. Fibroblastic connective tissue nevus. J Cutan
Pathol. 2016;43(1):75–79.
166. Pennacchia I, Kutzner H, Kazakov DV, Mentzel T. Fibroblastic connective tissue
nevus: clinicopathological and immunohistochemical study of 14 cases. J Cutan
Pathol. 2017;44(10):827–834.
167. Lima CDS, Issa MCA, Souza MB, Goes HFO, Santos T, Vilar EAG. Nevus lipomatosus
cutaneous superficialis. An Bras Dermatol. 2017;92(5):711–713.
168. Das D, Das A, Bandyopadhyay D, Kumar D. Huge nevus lipomatosus cutaneous
superficialis on back: an unusual presentation. Indian J Dermatol.
2015;60(3):296–297.
169. Bouchouicha S, Badri T, Hammami H, Koubaa W, Fenniche S. Giant nevus lipo-
matosus cutaneous superficialis. Presse Med. 2015;44(7-8):872–873.
170. Kwak HB, Park SW, Park SK, Yun SK, Kim HU, Park J. Congenital nevus lipomatosus
cutaneous superficialis of Hoffman and Zurhelle on the sole. Eur J Dermatol.
2018;28(3):377–378.
171. Kaw P, Carlson A, Meyer DR. Nevus lipomatosus (pedunculated lipofibroma) of the
B.J. Tjarks et al.
eyelid. Ophthalmic Plast Reconstr Surg. 2005;21(1):74–76.
172. Romero-Perez D, Jegou MH, Lecointre C, Penchet I, Cribier B. Primary cutaneous
ganglioneuroma: anatomico-clinical study of 4 cases with focus on Merkel cells. J
Cutan Pathol. 2018;45(6):403–411.
173. Reich MS, Anderson JR. Primary cutaneous ganglioneuroma of the finger mi-
micking verruca vulgaris: a case report. J Hand Surg Eur. 2013;38(3):329–331.
174. Ohno S, Horiguchi Y, Shintaku M. A case of cutaneous ganglioneuroma developing
within a lesion of seborrheic keratosis. J Dermatol. 2002;29(5):300–304.
175. Lee JY, Martinez AJ, Abell E. Ganglioneuromatous tumor of the skin: a combined
heterotopia of ganglion cells and hamartomatous neuroma: report of a case. J Cutan
Pathol. 1988;15(1):58–61.
176. Penner CR, Thompson L. Nasal glial heterotopia: a clinicopathologic and im-
munophenotypic analysis of 10 cases with a review of the literature. Ann Diagn
Pathol. 2003;7(6):354–359.
177. On HR, Seo J, Chung KY. A case of nasal glial heterotopia with complete excision.
Int J Dermatol. 2015;54(6):e246–e247.
178. Chau HN, Hopkins C, McGilligan A. A rare case of nasal glioma in the sphenoid
sinus of an adult presenting with meningoencephalitis. Eur Arch Oto-rhino-laryngol.
2005;262(7):592–594.
179. Calonje E, McKee PH. McKee's Pathology of the Skin. fourth ed. Edinburgh: Elsevier/
Saunders; 2012.
180. Argenyi ZB. Cutaneous neural heterotopias and related tumors relevant for the
dermatopathologist. Semin Diagn Pathol. 1996;13(1):60–71.
61
Descargado para Andrés Wunderwald (respaldoawy@gmail.com) en Valparaiso University de ClinicalKey.es por Elsevier en enero 17, 2024. Para
uso personal exclusivamente. No se permiten otros usos sin autorización. Copyright ©2024. Elsevier Inc. Todos los derechos reservados.
Seminars in Diagnostic Pathology 36 (2019) 48–61
181. Orkin M, Fisher I. Heterotopic brain tissue (heterotopic neural rest). Case report
with review of related anomalies. Arch Dermatol. 1966;94(6):699–708.
182. Schauer A, Harvey NT, Vijayasekaran S, Wood BA. Unusual case of combined
gliomeningeal heterotopia on the nose of an infant. Am J Dermatopathol.
2018;40(7):515–518.
183. Suster S, Rosai J. Hamartoma of the scalp with ectopic meningothelial elements. A
distinctive benign soft tissue lesion that may simulate angiosarcoma. Am J Surg
Pathol. 1990;14(1):1–11.
184. Miedema JR, Zedek D. Cutaneous meningioma. Arch Pathol Lab Med.
2012;136(2):208–211.
185. Lopez DA, Silvers DN, Helwig EB. Cutaneous meningiomas – a clinicopathologic
study. Cancer. 1974;34(3):728–744.
186. Sibley DA, Cooper PH. Rudimentary meningocele: a variant of "primary cutaneous
meningioma. J Cutan Pathol. 1989;16(2):72–80.
187. El Shabrawi-Caelen L, White WL, Soyer HP, Kim BS, Frieden IJ, McCalmont TH.
Rudimentary meningocele: remnant of a neural tube defect. Arch Dermatol.
2001;137(1):45–50.
188. Fox MD, Billings SD, Gleason BC, Thomas AB, Cibull TL. Cutaneous meningioma: a
potential diagnostic pitfall in p63 positive cutaneous neoplasms. J Cutan Pathol.
2013;40(10):891–895.
189. Lindberg MR. Diagnostic Pathology: Soft Tissue Tumors. Second ed. Philadelphia, PA:
Elsevier; 2016.