CME

Common Craniofacial Anomalies: Conditions

of Craniofacial Atrophy/Hypoplasia and
Neoplasia
Jeremy A. Hunt, F.R.A.C.S., and P. Craig Hobar, M.D.
Dallas, Texas

Learning Objectives: After studying this article, the participant should be able to: 1. Understand the etiology and
pathogenesis of the common conditions of craniofacial atrophy/hypoplasia and craniofacial neoplasia. 2. Recognize and
classify craniofacial atrophy/hypoplasia and craniofacial neoplasia. 3. Understand the different management plans for
the reconstruction of craniofacial conditions, including Romberg disease, postradiation hypoplasia, fibrous dysplasia,
neurofibromatosis, and craniofacial tumors.
The spectrum of craniofacial malformations includes
conditions of congenital and acquired etiology. The conditions of craniofacial atrophy and hypoplasia may arise
primarily or secondary to previous therapeutic interventions. The conditions of progressive hemifacial atrophy
(Romberg disease) and radiation-induced hypoplasia will
be reviewed on the basis of their etiology, pathogenesis,
anatomy, and treatment. Approaches to the surgical management of these conditions will be discussed. The craniofacial neoplastic conditions of fibrous dysplasia, neurofibromatosis, and craniofacial tumors will also be reviewed
and discussed. (Plast. Reconstr. Surg. 111: 1497, 2003.)

The wide spectrum of craniofacial neoplasms includes fibrous dysplasia, simple osteomas, benign angiofibromas, and neural tumors. The two most common craniofacial
tumors encountered by plastic surgeons are
fibrous dysplasia and neurofibromatosis. An
evolution from reconstructive craniofacial surgery is the application of craniofacial techniques to allow access to and ablation of such
craniofacial neoplasms during an aesthetic
reconstruction.
An overview of our current understanding of
the etiology, assessment, and treatment of the
conditions of progressive hemifacial atrophy
(Romberg disease), radiation-induced atrophy,
fibrous dysplasia, neurofibromatosis, and
craniofacial neoplasms will be presented and
discussed, as will the surgical correction of
these craniofacial anomalies.

Although the origin of craniofacial surgery

arose from applications in the pediatric population, it also has wide indications in the adult
population. Conditions that involve craniofacial atrophy and hypoplasia often require
craniofacial reconstruction. The condition of
progressive hemifacial atrophy (Romberg disease) presents with atrophy of skin, soft tissue,
and bone. High-dose radiation is a standard
form of treatment for some pediatric and adult
craniofacial tumors, with subsequent development of soft-tissue and bony hypoplasia of the
irradiated areas after treatment. The application of craniofacial surgical principles allows
the correction of these similar problems arising in these very different conditions. Reconstructive principles encompass reconstruction
of the craniofacial skeleton and the soft tissue.

CONDITIONS OF CRANIOFACIAL
ATROPHY/HYPOPLASIA
Romberg Disease (Progressive Hemifacial Atrophy)

Romberg disease manifests as progressive

hemifacial atrophy of skin, soft tissue, and
bone. This craniofacial condition was first described by Parry1 in 1825 and later by Romberg2 in 1846, though Eulenberg,3 in 1871,
coined the name progressive facial hemiatro-

From the Department of Plastic Surgery, University of Texas Southwestern Medical Center. Received for publication July 22, 2002.
DOI: 10.1097/01.PRS.0000049646.25757.BE

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PLASTIC AND RECONSTRUCTIVE SURGERY,

phy. The disease commences usually in the

first or second decade of life and is more common in the female population,4 with a femaleto-male ratio of 1.5 to 1. The atrophy is unilateral in 95 percent of cases. The right and left
sides of the face are involved with equal
frequency.
The cause of the disorder is unknown, although many theories as to its pathogenesis
have been proposed. Foremost among these
are infection,5 trigeminal peripheral neuritis,6
scleroderma,4 and cervical sympathetic loss.7
Pensler and colleagues8 evaluated 41 patients and noted that in all patients the atrophic changes began in a localized area and
progressed, at a variable rate, within the dermatome of one or more branches of the ipsilateral fifth cranial nerve. The average age at
inception of the disease was 8.8 years, and the
main period of progression was 8.9 6 years.
In 26 patients with skeletal involvement, the
mean age of onset was 5.4 years versus 15.4
years for 15 patients without skeletal involvement. No correlation could be established between severity of soft-tissue deformity and age
of onset. Tissue from six patients who had
ultrastructural analysis revealed a lymphocytic
neurovasculitis with striking abnormalities of
the vascular endothelium and basement mem-

April 1, 2003

brane. The alterations of the vascular basal

lamina of lymphocytic neurovasculitis seem to
reflect chronic vascular damage with repeated
attempts at endothelial cell regeneration (Fig.
1).
In their series, Moore and colleagues9 noted
that 50 percent of patients had the classic early
sign of coup de sabre, reflecting soft-tissue involvement in the upper face (frontal and maxillary dermatomes). In the presence of prolonged active disease, the soft-tissue atrophy
extended to involve the whole hemiface. Cases
of late-onset disease seem to be characterized
by soft-tissue atrophy primarily involving the
lower face. When bony hypoplasia is present, it
predominately affects the middle and lower
face, with involvement of the frontal region a
relatively infrequent occurrence.
The derangement of the craniofacial skeleton that is seen is unlikely to be solely caused
by an isolated intrinsic process. Moore et al.9
surmise that the restriction imposed by the
abnormal soft-tissue envelope undoubtedly
compounds any primary skeletal growth disturbance. They conclude that if the disease process involves bone, it would seem to exert an
effect on skeletal structure only during periods
of facial growth acceleration. Treatment involves three-dimensional reconstruction of all

FIG. 1. A moderate case of soft-tissue atrophy of the middle third of the left side of the face in a 9-year-old boy
with Romberg disease. The condition has progressed since its onset 1 year previously.

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CRANIOFACIAL ATROPHY AND NEOPLASIA

soft-tissue and skeletal disturbances. The timing of operation is based on correction of the
deformity after cessation of the ongoing atrophic process, usually at least 1 year after photographic monitoring records reveal no further progression of loss of volume to the face.
Soft-tissue reconstruction is directed at augmentation of deficient soft-tissue volume and
involves a spectrum extending from fat injection to free tissue transfer. Past treatment
methods have included silicone fluid injections,10 which are contraindicated because of
long-term complications, and injections of lipoaspirated fat, which have met with mixed
results,11 though autologous fat injections certainly have a place in the correction of mild
contour irregularities. Muscular atrophy of
pedicled or free muscle flaps presents a problem for calculating the final volume needed for
the repair,12 and for this reason adipose flaps
are preferred.
When large-volume correction is necessitated, free tissue transfer is warranted. Greater
omentum free flaps have been described by
Jurkiewicz and Nahai,13 who nevertheless point
out the drawbacks of lack of structural strength
and gravitational descent. Inigo and colleagues14 review their experience with dermisfat free flaps in 35 patients with Romberg disease. They used a groin free flap in 33 patients
and a scapular flap in three patients in a twostage procedure consisting of transfer of the
free flap and defatting and repositioning 6
months later. Adjuvant procedures included
temporal fascial flaps for the frontal regions
and cartilage grafts in the piriform fossa. The
chin was corrected by either sliding osteotomies for projections of less than 1 cm or by
alloplastic implants for projections of more
than 1 cm.
Dunkley and Stevenson15 prefer a groin flap
for soft-tissue augmentation because of its less
conspicuous donor defect and lower potential
morbidity. Tweed et al. 16 suggest that a
smoother cheek contour can be achieved by
placing the dermis outward. Harashina and
Fujino17 argue that placing the dermis side
down should reduce gravitational sagging, one
of the major problems with soft-tissue reconstruction in this situation. The abdominal flap,
a variation of the groin flap based on the inferior epigastric vessels, has also been reported.10,18 Koshima et al.19 describe their experience with the deep inferior epigastric
perforator flap.

1499

Mordick and colleagues20 compared eight

patients treated with dermal fat grafts and
eight treated with vascularized tissue transfer
to determine the efficacy of the two methods.
The vascularized transfers provided a greater
amount of augmentation. Dermal fat grafting
was a satisfactory technique for mild-tomoderate defects. Dermal fat grafting is a
shorter procedure requiring less anesthetic
time, less technical expertise and support, and
shorter hospital stays, whereas vascularized
transfers that are composed of adipose tissue
seem to increase in volume during growth and
may also increase with weight gain. Late in
their series, the authors lean toward augmentation with the scapular flap because of its
large-caliber vessels and long pedicle. Their
patients averaged 3.3 procedures for final
correction.
Upton and colleagues21 reported their experience with 30 scapular flaps for cheek reconstruction. Five of these patients had Romberg
disease. The major advantages of the scapular
flap included a constant proximal vascular
anatomy, a long vascular pedicle with largecaliber vessels, a large amount of available tissue (including bone), relatively hairless skin in
most patients, and minimal or no functional
problems at the donor site. Major disadvantages included lack of sensation, poor external
cheek skin color match, and a predictably widened scar at the donor site. The study produced the following observations:
Deficiency of the malar prominence cannot
always be corrected with soft tissue alone and
often needs bone grafting or alloplastic
implant.
Correction with extensor fascial hypertrophy-long fascial extension must be transferred
across the midline of the upper and lower lips.
The area most consistently uncorrected is
the medial portions of the deficient upper and
lower lips.
The area most consistently overcorrected
overlies the mandibular body and ramus.
Longaker and Siebert22 reported their experience with 15 cases of Romberg disease representing 16 free tissue transfers. Deepithelialized extended parascapular flaps with large
fascial extensions of the dorsal thoracic fascia
were used for reconstruction. The fascia can be
folded into variable thicknesses to correct subtle contour defects of the upper lip, medial
canthus, eyelids, and other facial features traditionally difficult to reconstruct. These exten-

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PLASTIC AND RECONSTRUCTIVE SURGERY,

sions can be placed easily across the midline to

interdigitate with normal tissues at the boundary of the facial deformity.
Severe cases with bone involvement require
orthognathic surgery in addition to all of the
above procedures. A Le Fort I osteotomy can
be performed to lengthen the maxilla and improve the vertical dimension of the face on the
affected side. A sagittal split osteotomy can be
performed to complete the required rotationprojection of the mandible in association with
an advancement or sliding genioplasty (Fig. 2).
Radiation-Induced Craniofacial Deformity

High-dose radiation is a standard form of

treatment for some pediatric craniofacial tumors, including retinoblastoma, rhabdomyosarcoma, Ewing sarcoma, and neurofibrosarcoma. It also has application in the treatment
of oropharyngeal carcinoma in adults. After
radiation treatment, patients can subsequently
develop soft-tissue and bony hypoplasia of the
irradiated areas. These deficiencies can be partially corrected by onlay bone grafting and softtissue reconstruction with local pedicled flaps
and dermal-fat grafts in multiple stages,23 or
they may necessitate free tissue transfer (Fig.
3).
Jackson and colleagues24 studied 14 children
who received therapeutic radiation for malig-

April 1, 2003

nant tumors in the orbital area and who subsequently showed widespread craniofacial deformities. The original tumors were
retinoblastoma, rhabdomyosarcoma, and embryonic carcinoma. Years later, maldevelopment of the skull, orbit, maxilla, and mandible
became apparent. Jackson et al.24 recommend
the correction of four levels of skeletal deformity in a single procedure, as follows:
1. frontotemporal expansion with repositioning of the cranial base
2. orbital expansion and repositioning
3. maxillary surgery with bone grafts to the
zygoma as required
4. mandibular lengthening and repositioning
Bone grafts should be inlay rather than onlay, and soft tissue should be supplied by free
tissue transfer. At a second operation, the eye
socket and eyelids are reconstructed to allow
more satisfactory rehabilitation with an ocular
prosthesis. Based on their observations during
extensive skull base and orbital dissections,
Jackson and colleagues24 believe that radiation
has impaired the growth of the sphenoid,
which in turn has locked the upper face and
prevented normal development of the facial
skeleton. In addition, the frontal, ethmoid,
and maxillary sinuses have failed to expand,
resulting in a further decrease of craniofacial

FIG. 2. (Left) A severe case of right hemifacial atrophy in a 16-year-old boy with Romberg
disease. Involvement in the distribution of the ophthalmic, maxillary, and mandibular divisions
of the trigeminal nerve has resulted in soft-tissue and bony atrophy and pigmentary skin changes
of the entire right hemiface. The condition has been nonprogressive for the past 12 months.
(Right) The same patient after reconstruction with onlay porous hydroxyapatite granules to the
frontal and temporal bones and soft-tissue augmentation of the middle and lower face with a
groin flap free tissue transfer.

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CRANIOFACIAL ATROPHY AND NEOPLASIA

CRANIOFACIAL NEOPLASMS
Fibrous Dysplasia

FIG. 3. Hypoplasia of the soft tissue and skeleton of the

lower and middle third of the face in a 15-year-old girl after
radiation for retinoblastoma.

dimensions. Craniotomy is essential to position

the skull base correctly to accurately seat and
remodel the orbit and maxilla. Similar procedures and approaches to correction of these
deformities have been described by Nwoku and
Koch,25 Larson,26 Marx and Johnson,27 Guyuron and colleagues,28,29 and Kawamoto.30
Cohen et al.23 described their experience
with reconstruction of late craniofacial deformities after therapeutic radiation of the head
and face during childhood. Forty percent of
the patients in their series required secondary
procedures for improvement. The authors anticipate increasing the use of free tissue transfer in these cases.
Individuals who as children were irradiated
for hemangiomas of the face are also presenting to plastic surgery clinics with severe craniofacial deformities. At one time, high-beam radiotherapy was advocated for capillary
hemangioma of the cheek. The sequelae of
this treatment in the growing child are now
painfully evident as severe facial deformities in
the adult. Reconstruction should follow the
principles outlined by Jackson and colleagues24
(Fig. 4).

The most common osseous craniofacial tumor encountered by plastic surgeons is fibrous
dysplasia.23 an uncommon, non-neoplastic, benign bone disease first described by von Recklinghausen in 1891.31 The pathogenesis of fibrous dysplasia involves abnormal activity of
the bone-forming mesenchyme with an arrest
of bone maturation in the woven bone stage,
forming irregularly shaped trabecula. Mutations of signaling protein and increased interleukin-6 levels have been implicated in the process.32 The condition is usually progressive
until age 30, and reports of progression well
into adulthood are not uncommon.32
Fibrous dysplasia in the cranio-orbital area
tends to be more osseous than fibrous dysplasia
of other sites. Two patterns of presentation
predominate: the monostotic form, with singlebone involvement, and the polyostotic variety,
which may be associated with abnormal skin
pigmentation, premature sexual development,
and hyperthyroidism (Albright syndrome).
The monostotic form is approximately four
times more common than the polyostotic form
and approximately 30 times more frequent
than the complete Albright syndrome. The
monostotic form typically involves the ribs, femur, tibia, cranium, maxilla, and mandible.
The most often affected bones in the cranium
are the frontal and sphenoid bone, and in the
face, the maxilla.33,34
Posnick34 reviews current clinical perspectives on fibrous dysplasia and points out what

FIG. 4. Bilateral soft-issue and skeletal atrophy of the face

in a 23-year-old woman following radiation therapy for bilateral retinoblastoma.

1502

he believes are the keys to its effective

management:

accurate diagnosis
radiographic assessment
clinical evaluation
planned interventions
long-term follow-up

Deformation caused by fibrous dysplasia of

the anterior skull base can affect the architecture of the orbits and paranasal sinus, causing
orbital displacement and exophthalmos.35,36 In
craniofacial fibrous dysplasia, the symptoms
are varied and related to tumor mass. Symptoms may include facial pain and swelling,
headaches, anosmia, deafness, blindness, malocclusion with displacement of teeth, diplopia,
proptosis, and orbital dystopia. Cranial nerve
palsies including optic nerve compression are
not uncommon.37 Eye symptoms may include
extraocular muscle palsy and trigeminal neuralgia secondary to compression of the third
and fifth cranial nerves. Orbital apex compression can initiate the cascade of ophthalmic
venous engorgement, optic nerve atrophy, and
loss of vision. Sphenoid body involvement can
cause blindness as a result of compression of
the optic nerve between the chiasm and optic
foramen. Minor ophthalmic symptoms include
epiphora produced by occlusion of the lacrimal duct and visible external lid deformities.38
Malignant degeneration occurs in approximately 0.5 percent of patients.39 Clinical signs
of malignancy consist of a rapid increase in
size, pain, intralesional necrosis, bleeding, and
elevation of serum alkaline phosphatase levels.
The most common transformation is to osteogenic sarcoma, but fibrosarcoma and chondrosarcoma are also seen. The mean interval from
diagnosis of fibrous dysplasia to evidence of
malignancy is 13.5 years.38 The polyostotic
form of the disease has a higher incidence of
malignant degeneration, although the monostotic form is more common in the craniofacial
region. Malignant degeneration can occur
spontaneously or following radiotherapy.
Familial fibrous dysplasia or cherubism is a
genetic disorder of the mandible and maxilla
of the giant-cell type. It is strictly a self-limiting
disease of children that regresses without operation and leaves no deformity.40
In the past, conservative treatment of fibrous
dysplasia was preferred, occasionally with bonecontouring procedures. Spontaneous involu-

PLASTIC AND RECONSTRUCTIVE SURGERY,

April 1, 2003

tion will not occur, however, and early surgical

intervention when symptoms are just beginning may avoid extensive resection later.41
When clinically feasible, the mainstay of therapy is complete or near-complete resection
and reconstruction with normal autogenous
bone. In 1972, Derome42 pioneered the concept of total excision and immediate reconstruction of bone tumors, including four cases
of fibrous dysplasia. Chen and colleagues43 discussed the benefits and risks of prophylactic
optic nerve decompression before symptoms
develop. The decision for operation in these
cases is made solely on the basis of computed
tomographic findings of encroachment of the
optic canal by fibrous dysplasia. The primary
justification for prophylactic decompression is
the speed with which visual deterioration can
occur and the short span of time before it
becomes permanent. Among the reports of
sudden loss of vision, several attribute the
cause of blindness to hemorrhage or mucocele
secondary to fibrous dysplasia.44 In their own
study of 18 patients with clinical or radiological
evidence of optic canal involvement, Chen and
associates43 found that six patients (33 percent)
had loss of effective vision in the involved eye.
From this experience and a review of the literature, the authors developed an algorithm for
decompression of the optic nerve in fibrous
dysplasia. Absolute indications for decompression are:
progressive gradual visual loss
presentation within 1 week of sudden visual
loss
Relative indications for decompression are:
presentation within 2 to 3 weeks of rapid
visual loss
children or adolescents presenting with no
visual loss but radiographic evidence of optic canal reduction, because of the likelihood of progressive growth of fibrous
dysplasia
adults presenting with no visual loss but radiographic evidence of optic canal reduction and continuing, active fibrous dysplasia
(Fig. 5)
Reconstruction after resection is typically immediate. Edgerton and colleagues31 described
the use of the dysplastic bone as grafts, which,
after resection, were contoured, thinned, and
replaced. These grafts of dysplastic bone seem

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CRANIOFACIAL ATROPHY AND NEOPLASIA

FIG. 5. Computed tomographic scan of a 13-year-old girl

who developed sudden blindness in the right eye while taking
a bath. An area of decreased density in the body of the
sphenoid has eroded the right orbital wall of the right optic
canal (white arrow). The left optic canal is also tightly stenosed
by fibrous dysplasia (black arrow). (From Chen, Y. R., Breidahl,
A., and Chang, C. N. Optic nerve decompression in fibrous
dysplasia: Indications, efficacy, and safety. Plast. Reconstr. Surg.
99: 22, 1997.)

to function similarly to normal autogenous

grafts, and they lack the potential for the gradual recurrence of bone thickening frequently
seen with in situ bone contouring.
Autoclaving45and cryotherapy46,47 have been
proposed to destroy the cellular elements and
yet preserve the mineral matrix before
reinsertion.
Chen and Noordhoff48 analyzed their experience with the treatment of 28 patients with
fibrous dysplasia. The authors outline an operating protocol that includes:
total excision of dysplastic bone of the frontoorbital, zygomatic, and upper maxillary region and primary reconstruction with bone
grafts
conservative excision of bone from under
the hair-bearing skull, central cranial base,
and tooth-bearing regions
optic canal decompression in patients with
orbital involvement and decreasing visual
acuity (Fig. 6)
In a follow-up averaging 5.3 years, the authors found no recurrence or invasion of fibrous dysplasia into the grafted bone; however,

1503

FIG. 6. Craniomaxillofacial bones are divided into four

zones to allow treatment planning. Zone 1, radical excision
and reconstruction. Zone 2, optional conservative contouring
or radical excision with reconstruction. Zones 3 and 4, conservative treatment. (From Chen, Y. R., and Noordhoff,
M. S. Treatment of craniomaxillofacial fibrous dysplasia:
How early and how extensive? Plast. Reconstr. Surg. 86: 835,
1990.)

five of 19 patients treated with reduction of

alveolar dysplasia had recurrence of the deformity that necessitated reshaping. One patient
with recurrent mandibular fibrous dysplasia
was successfully treated with hemimandibulectomy and mandibular reconstruction with vascularized bone graft.
Hansen-Knarhoi and Poole49 remarked on
the difficulty of differentiating fibrous dysplasia from intraosseous meningioma around the
orbital apex. From a review of their files, they
summarized the differences as follows:
Fibrous dysplasia commences in childhood
and early adolescence, whereas meningiomas are diseases of middle age.
Visual symptoms are prominent in meningioma cases but are uncommon in fibrous
dysplasia.
Proptosis is much more marked than orbital
dystopia in the meningioma group, but the
reverse is true in fibrous dysplasia.
Fibrous dysplasia patients have extensive
frontal bone involvement that is clinically

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PLASTIC AND RECONSTRUCTIVE SURGERY,

obvious; meningioma patients have no evidence of this.

Pain is present in both groups and is not a
useful discriminating feature.
Most fibrous dysplasia lesions can be only
partly excised. Some are unresectable, arguing
for treatment methods other than operation.
No medical treatment is available to cure or
definitively halt the progression of fibrous dysplasia. Reports of promising responses to sys-

April 1, 2003

temic treatments with the biphosphate pamidronate await further studies before conclusions
can be drawn.50 Clark et al.51 implanted fibrous
dysplasia cells in a nude mouse model and
successfully decreased the size of the tumor
with tamoxifen administration (Fig. 7).
Neurofibromatosis

Neurofibromatosis is a hereditary condition

occurring in one in 3000 live births. The term

FIG. 7. (Left, above and below) A 34-year-old man with fibrous dysplasia affecting the left
supraorbital region with contour anomaly and left ocular dystopia. Onset of the anomaly was
noted 8 years previously, with progression over 6 years. The condition has been nonprogressive
for 2 years. There is no compromise to visual acuity in the left eye. (Above, right) Postoperative
result after reconstruction involving resection of the diseased bone of the orbit and orbital
reconstruction with split calvarial bone grafts and contouring with onlay porous hydroxyapatite
granules. (Below, right) Coronal computed tomographic scan showing the involved portion of
supraorbital rim and orbital roof, resulting in contour deformity and inferior displacement of
the left globe.

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CRANIOFACIAL ATROPHY AND NEOPLASIA

neurofibromatosis is applied to two clinical genetic disorders. The first, neurofibromatosis

type 1, also known as von Recklinghausen disease, is more common. The second disorder,
type 2, is more rare and is known as bilateral
acoustic neurofibromatosis. The two disorders
have very distinctive clinical manifestations and
some overlapping features. Mutation of genes
on two different chromosomes is at the origin
of the two disorders. The gene for type 1 is
located on the long arm of chromosome 17;
the gene for type 2 is located on the long arm
of chromosome 22.52 Approximately 50 percent of patients have a positive family history of
neurofibromatosis. Transmission is autosomal
dominant, with variable penetrance.
Neurofibromatosis is a benign tumor of neuroectodermal origin with diffusion to skin, subcutaneous tissue, and bone. Tumor growth is
slow and irregular and is not accelerated by
surgical intervention, with sarcomatous degeneration a rare occurrence.
Surgical care often produces less than complete correction with some further progression
over time.53,54 Poole,53 in a series of 11 patients,
stressed the high complication rate and the
modest improvement in appearance that
should be expected. The best cosmetic results
are obtained in patients whose eye can be removed and a satisfactory bed created for an
orbital prosthesis. Patients who have vision in
the eye and wish to retain it should undergo a
two-stage procedure with conservative debulking of intraorbital soft tissue. Krastinova-Lolov
and Hamza52 reviewed their experience with 14
cases of cranio-orbital neurofibromatosis. They
noted that the partial or complete absence of
the greater wing of the sphenoid is responsible
for enlargement of the sphenoidal fissure, with
a consequent defect in the posterior wall of the
orbit. Brain tissue, generally the temporal lobe,
may herniate into the orbit, further increasing
exorbitism and causing pulsation of the eye.
The orbit is enlarged, with hypoplasia of the
supraorbital and infraorbital rims and the zygomatic arch. When the globe is involved with
the neurofibroma, there may be buphthalmos,
severely diminished visual acuity, and even
blindness. Associated symptoms are irritation,
pain in the eye, and moderate-to-severe epiphora. Enophthalmos may occur from enlargement of the inferior orbital fissure, which allows the orbital contents to prolapse into the
infratemporal fossa and increases the size of
the orbital cavity.

Snyder et al.55 described the experience of

the Australian Craniofacial Unit in correcting
14 cases of orbital neurofibromatosis. Of note
was their finding of resorption of the bone
graft used to reconstruct the greater wing of
the sphenoid in four cases, which led to recurrence of globe pulsation. Subsequently, the authors began using titanium mesh in the reconstruction. Jackson et al.56 presented their
experience with orbitotemporal neurofibromatosis in 24 patients and provided a classification
and treatment scheme. They grouped the condition into three categories, each of which requires a different treatment: (1) orbital softtissue involvement with vision in the eye, (2)
orbital soft-tissue and significant bone involvement with vision in the eye, and (3) orbital
soft-tissue and significant bone involvement
with a blind or absent eye (Fig. 8). In addition,
the authors reported their follow-up observations over a 12-year period.
Craniofacial Tumors

Many different kinds of neoplasms can potentially involve the craniofacial skeleton, including fibrous dysplasia, simple osteomas;
benign angiofibromas; neural tumors, specifically, meningiomas with extracranial erosion
and encapsulated neurofibromas, schwannomas, and neurilemmomas 5759 ; cutaneous
carcinomas; osteogenic sarcomas; and rhabdomyosarcomas.
The use of craniofacial techniques in the
ablation of craniofacial tumors arose from the
evolving application of such techniques in congenital craniofacial conditions. As clinical experience mounted, the following principles for
the surgical management of craniofacial neoplasms evolved:
It is now possible to resect lesions that were
previously considered unresectable.60
Tumor position should be related to the
base of the skull.61
Tumor resection demands strict adherence
to guidelines designed for tumor location, cell
type, and stage, and the concept of complete
en bloc excision. The latter is possible through
regional orbitotomies for confined orbital tumors, bifrontal craniotomy, and facial incisions
(e.g., Weber-Ferguson) when necessary.
There is a significant risk of losing the frontal bone flap to infection.62,63
The transfacial approach64 may reduce the
frequency of infectious complications.
It is essential to prevent communication be-

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PLASTIC AND RECONSTRUCTIVE SURGERY,

April 1, 2003

FIG. 8. Neurofibromatosis involving the right orbit, with extensive orbital soft-tissue and bone involvement and
a blind right eye.

tween the sinuses or nasal cavity and the meninges or intracranial dead space. The best way
to achieve this is by interposing thin, vascularized tissue, such as a pedicled paracranial flap
for very small defects, a galea frontalis flap for
anterior defects,65 and a temporalis muscle66 or
temporoparietalis fascial flap for lateral and
central defects.
The tissue that isolates the intracranial contents can also be supplied by a microsurgical
free flap.67,68 In addition to preventing communication with the oral cavity and nasopharynx,
free flaps offer protection for vital structures
and bring large amounts of soft-tissue bulk for
contouring. These flaps can be transferred secondarily to treat complications, but they probably should be raised prophylactically at the
time of the ablative procedure. A 1989 survey69
showed the use of primary free flaps in as many
as 50 percent of cases of intracranial tumors.
Lund and colleagues70 reviewed the results
of treatment in 209 patients with craniofacial
tumors with up to 17 years of follow-up. Malignant conditions predominated (68 percent),
the most common of which was adenocarcinoma, although 41 different pathological findings were encountered. Nasal obstruction (55
percent) and epistaxis (38 percent) were the
most common presenting symptoms; orbital

symptoms were manifest in 56 percent of patients. Resection involved a craniofacial approach, with a frozen section used to ascertain
involvement of the orbit necessitating resection. No orbital resection was necessary in 69
percent of the patients. In 11 percent, the orbital periosteum was removed and the globe
was preserved based on the results of the intraoperative frozen section; 20 percent of the patients had orbital clearance, and 80 percent
showed no dural involvement. Survival using
this approach was 51 percent at 5 years and 41
percent at 10 years. In a precraniofacial era,
survival results of 23 percent to 38 percent
were expected.70 The authors provide an algorithm for approaching such problems.
P. Craig Hobar, M.D.
Department of Plastic Surgery
University of Texas Southwestern Medical Center
411 N. Washington Avenue
Suite 6000, LB 13
Dallas, Texas 75246
chobar@aol.com
REFERENCES
1. Parry, C. H. Collections from the Unpublished Medical Writings of the Late Caleb Hillier Parry. London: Underwoods, 1825. Pp. 478 480.
2. Romberg, M. H. Klinische Ergebnisse. Berlin: A. Forstner,
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CRANIOFACIAL ATROPHY AND NEOPLASIA

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Self-Assessment Examination follows on

the next page.

Self-Assessment Examination
Common Craniofacial Anomalies: Conditions of Craniofacial
Atrophy/Hypoplasia and Neoplasia
by Jeremy A. Hunt, F.R.A.C.S., and P. Craig Hobar, M.D.
1. THE CLASSIC PRESENTATION OF ROMBERG DISEASE, WHICH IS SEEN IN OVER 50 PERCENT OF
PATIENTS, INCLUDES WHICH OF THE FOLLOWING:
A) Isolated upper facial soft-tissue atrophy
B) Unilateral mandibular hypoplasia
C) Entire soft-tissue hemifacial atrophy
D) Central soft-tissue facial atrophy
E) Bilateral upper soft-tissue facial atrophy
2. ALTHOUGH THE ETIOLOGY OF ROMBERG DISEASE IS UNKNOWN, THE HISTOLOGICAL FINDINGS IN
THE INVOLVED SOFT TISSUE BEST SUPPORT WHICH OF THE FOLLOWING:
A) Viral infection
B) Parasitic infestation
C) Lymphocytic neurovasculitis
D) Sympathetic denervation
E) Autonomic denervation
3. WHEN PLANNING SOFT-TISSUE OR BONY RECONSTRUCTION IN PATIENTS WITH ROMBERG DISEASE,
THE TIMING OF THE INITIAL PROCEDURE IS BEST DONE AT WHAT POINT?
A) As soon as possible after diagnosis
B) Within 3 months of onset
C) Within 6 months of onset
D) As soon as possible after cessation of progression
E) One year after documented cessation of progression
4. FOLLOWING SOFT-TISSUE RECONSTRUCTION OF THE CHEEK AND LOWER FACE IN PATIENTS WITH
ROMBERG DISEASE, THE AREA MOST OFTEN UNDERCORRECTED IS THE:
A) Malar prominence
B) Central portion of upper and lower lips
C) Central cheek
D) Area over ramus of mandible
E) Area of body of mandible
5. IN THE MONOSTOTIC FORM OF FIBROUS DYSPLASIA, THE MOST OFTEN INVOLVED FACIAL BONE IS THE:
A) Zygoma
B) Maxilla
C) Mandible
D) Sphenoid
E) Palatine
6. THE SINGLE ABSOLUTE INDICATION FOR DECOMPRESSION OF THE OPTIC NERVE IN PATIENTS WITH
FIBROUS DYSPLASIA IS:
A) Clinical visual loss
B) Radiographic evidence of sphenoid involvement
C) Radiographic evidence of skull base involvement
D) Radiographic evidence of optic nerve compression
E) Presence of papilledema

7. ALTHOUGH EACH IS IMPORTANT, WHICH OF THE FOLLOWING IS THE MOST CRITICAL FACTOR WHEN
TREATING TUMORS OF THE CRANIOFACIAL SKELETON?
A) Use of combined transfacial and intracranial approach
B) Use of frozen section to ensure complete resection
C) Use of autologous bone grafts
D) Prevention of communication between nasal and cranial spaces
E) Perioperative antibiotics

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