CASE REPORT
Segmental Neurofibromatosis
Report of a Rare Entity
Tiffany Alexander, Bao Anh Patrick Tran, Wen Chen, Mary Maiberger
ABSTRACT: Segmental neurofibromatosis is a rare condi-
tion that most commonly affects women and presents as
neurofibromas, café au lait spots, and freckling. The neuro-
fibromas usually occur in a dermatomal pattern, whereas
the café au lait spots may follow Blaschko’s lines. There is
often no family history. The etiology is due to a postzygotic
mutation in the gene encoding neurofibromin. Histopa-
thology reveals a tumor with haphazardly arranged spindle
cells and a pale myxoid stroma from mucin deposition and
fibroplasia. There have been few reported cases of seg-
mental neurofibromatosis. In this case report, we will discuss
the clinical features, histopathology, differential diagnosis,
and management of segmental neurofibromatosis.
Key words: Cafe-au-Lait Macule, Neurofibroma,
Neurofibromin, Segmental Neurofibromatosis, Spindle Cell
Tumor
CASE REPORT
A 67-year-old African American man presented with a
more than 40-year history of soft papules on his left arm,
hand, and upper chest and back. The papules were
asymptomatic, and no one in his family had similar
lesions. He denied visual abnormalities or difficulty
hearing. His past medical history was significant for
Hepatitis C. On physical examination, several skin-
colored, soft papules ranging from 4 to 9 mm in diameter
were scattered on the left dorsal hand, left forearm, left
upper chest, and left upper back (Figure 1). On the left
Tiffany Alexander, BA, Howard University College of Medicine,
Washington, DC.
Bao Anh Patrick Tran, MD, Department of Dermatology, Howard
University Hospital, Washington, DC.
Wen Chen, MD, Department of Pathology, Veterans Affairs
Medical Center, Washington, DC.
Mary Maiberger, MD, Department of Dermatology, Veterans
Affairs Medical Center, Washington, DC.
The authors declare no conflicts of interest.
Correspondence concerning this article should be addressed to Bao
Anh Patrick Tran, MD, Department of Dermatology, Howard
University Hospital, 2041 Georgia Ave., NW #2107, Washington,
DC 20060.
E-mail: ptran@huhosp.org
Copyright B 2017 by the Dermatology Nurses’ Association.
DOI: 10.1097/JDN.0000000000000290
VOLUME 9 | NUMBER 2 | MARCH/APRIL 2017
Copyright © 2017 Dermatology Nurses' Association. Unauthorized reproduction of this article is prohibited.
dorsal hand, there were two tan-colored patches ap-
proximately 3 cm in diameter (Figure 2). There was no
evidence of axillary or inguinal freckling. Visual inspec-
tion of the eyes revealed no abnormalities. Nails and oral
mucosa exhibited no pathologic findings. Shave biopsies
were performed on the lesions on the left upper back, left
upper chest, and left volar forearm, all of which revealed
a circumscribed, nonencapsulated, intradermal, mildly
cellular, spindle cell proliferation. The stroma had fine
wavy strands of collagen, and associated spindle cells
had elongated, wavy nuclei with indistinct, wispy cyto-
plasm. A slight increase in interstitial mucin was present
along with scattered mast cells (Figures 3 and 4). Given
the patient’s clinical and histopathologic findings, he was
diagnosed with segmental neurofibromatosis.
DISCUSSION
Segmental neurofibromatosis was first described by
Gammel in 1931. The idea of somatic mutation as the
etiology of the disease was suggested in 1956 by Crowe,
Schull, and Neel (1956). The term segmental neurofi-
bromatosis was coined by Miller and Sparkes in 1977. In
1982, Riccardi proposed an eight-group clinical classifi-
cation system for neurofibromatosis, and segmental
neurofibromatosis was classified as NF5 in which local-
ized disease lacks bilateral, systemic, or familiar charac-
teristics (Riccardi, 1982).
Segmental neurofibromatosis is a rare disorder, with a
prevalence of approximately 1 in 40,000, less common
than Neurofibromatosis type 1 (NF1) (Ruggieri & Huson,
2001). The disease occurs more often in women. Clini-
cally, patients present with cutaneous signs of NF such as
neurofibromas, café au lait spots, and freckling limited to
a dermatomal region without crossing the midline. This
is due to somatic mosaicism; that is, a postzygotic mutation
in the gene encoding neurofibromin. The distribution of
neurofibromas usually occurs in a dermatomal pattern,
whereas café au lait spots may follow Blaschko’s lines.
Offspring may develop NF1 if the mutation involves the
gonads. The neurofibromas are usually asymptomatic, but
patients may occasionally report irritation, pruritus, or
pain (Bolognia, Jorizzo, & Schaffer, 2012).
85
FIGURE 1. Scattered, soft skin-colored papules on the left
dorsal hand.
Neurofibromas represent a proliferation of all elements
of peripheral nerves. Histologically, a neurofibroma
appears as a tumor with haphazard arrangement of
spindle cells with comma- or S-shaped nuclei (James, Berger,
Elston, & Neuhaus, 2016). There is a pale, myxoid stroma
from mucin deposition and fibroplasia. Numerous mast
cells are seen (Bolognia et al., 2012).
The differential diagnosis of segmental neurofibroma-
tosis includes generalized NF1. Unilateral lentigines in the
axilla or groin can be seen in partial unilateral lentiginosis
or a large nevus spilus (Bolognia et al., 2012). Dermato-
mal nodules have been reported in areas of previous
herpes zoster eruption or otherwise in linear distributions
with broad etiologies such as lymphoma, pseudolym-
phoma, granuloma annulare, sarcoidosis, and xanthomas
(Hager, Cohen, & Tschen, 1997). In our patient’s case,
the diagnosis of cutaneous leiomyomas limited to one
extremity was also considered.
FIGURE 2. Grouped, soft skin-colored papules on the left
dorsal forearm.
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FIGURE 3. Hematoxylin and Eosin stain of 40. Nonencapsulated
spindle cell tumor in the dermis with a fibromyxoid stroma.
Mast cells are present.
There are no specific treatment guidelines for the
management of segmental neurofibromatosis. Symptom-
atic neurofibromas can be removed at the patient’s
request. A thorough physical examination should be per-
formed to rule out the presence of café au lait spots, neuro-
fibromas, and Lisch nodules, which are white to yellow or
brown melanocytic hamartomas found on the iris
(Abdolrahimzadeh, Piraino, Albanese, Cruciani, &
Rahimi, 2016). There is a low risk of systemic compli-
cations, and patients should be educated that they do not
have generalized NF (Ruggieri & Huson, 2001). How-
ever, involvement of a gonadal mutation can lead to sys-
temic NF in offspring, and genetic counseling should be
considered. Genetic testing in peripheral blood can be nega-
tive, in which case the diagnosis can be confirmed by
analyzing the NF1 gene in melanocytes or Schwann cells
cultured from a lesional biopsy specimen of a café au lait
FIGURE 4. H&E stain, original magnification of 100.
Nonencapsulated spindle cell tumor in the dermis with a
fibromyxoid stroma. Mast cells are present.
Journal of the Dermatology Nurses’ Association

spot or neurofibroma, respectively (Bolognia et al., 2012).
This patient only desired removal of a symptomatic lesion
on his forearm that would catch on objects or otherwise
become irritated. He was referred to ophthalmology for
slit lamp examination, but no Lisch nodules were found.
There was no prior family history of NF, and he declined
genetic testing. We present this case of segmental neuro-
fibromatosis as it is a rarely reported entity. h James, W. D., Berger, T. G., Elston, D. M., & Neuhaus, I. M. (2016).
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