common craniofacial anomalies. conditions of craniofacial atrophyhypoplasia and neoplasia

8/17/2019 Common Craniofacial Anomalies. Conditions of Craniofacial AtrophyHypoplasia and Neoplasia

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CME

Common Craniofacial Anomalies: Conditionsof Craniofacial Atrophy/Hypoplasia andNeoplasia 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 andclassify craniofacial atrophy/hypoplasia and craniofacial neoplasia. 3. Understand the different management plans forthe reconstruction of craniofacial conditions, including Romberg disease, postradiation hypoplasia, fibrous dysplasia,neurofibromatosis, and craniofacial tumors.

The spectrum of craniofacial malformations includesconditions of congenital and acquired etiology. The con-ditions of craniofacial atrophy and hypoplasia may ariseprimarily or secondary to previous therapeutic interven-tions. The conditions of progressive hemifacial atrophy (Romberg disease) and radiation-induced hypoplasia willbe reviewed on the basis of their etiology, pathogenesis,anatomy, and treatment. Approaches to the surgical man-agement of these conditions will be discussed. The cranio-

facial neoplastic conditions of fibrous dysplasia, neurofi-bromatosis, and craniofacial tumors will also be reviewedand discussed. (Plast. Reconstr. Surg. 111: 1497, 2003.)

Although the origin of craniofacial surgery arose from applications in the pediatric popu-lation, it also has wide indications in the adult population. Conditions that involve craniofa-cial atrophy and hypoplasia often requirecraniofacial reconstruction. The condition of progressive hemifacial atrophy (Romberg dis-ease) presents with atrophy of skin, soft tissue,

and bone. High-dose radiation is a standardform of treatment for some pediatric and adult craniofacial tumors, with subsequent develop-ment of soft-tissue and bony hypoplasia of theirradiated areas after treatment. The applica-tion of craniofacial surgical principles allowsthe correction of these similar problems aris-ing in these very different conditions. Recon-structive principles encompass reconstructionof the craniofacial skeleton and the soft tissue.

The wide spectrum of craniofacial neo-plasms includes fibrous dysplasia, simple osteo-mas, benign angiofibromas, and neural tu-mors. The two most common craniofacialtumors encountered by plastic surgeons arefibrous dysplasia and neurofibromatosis. Anevolution from reconstructive craniofacial sur-gery is the application of craniofacial tech-niques to allow access to and ablation of suchcraniofacial neoplasms during an aestheticreconstruction.

An overview of our current understanding of the etiology, assessment, and treatment of theconditions of progressive hemifacial atrophy (Romberg disease), radiation-induced atrophy,fibrous dysplasia, neurofibromatosis, andcraniofacial neoplasms will be presented anddiscussed, as will the surgical correction of these craniofacial anomalies.

CONDITIONS OF CRANIOFACIAL A TROPHY /H YPOPLASIA

Romberg Disease (Progressive Hemifacial Atrophy)

Romberg disease manifests as progressivehemifacial atrophy of skin, soft tissue, andbone. This craniofacial condition was first de-scribed by Parry 1 in 1825 and later by Rom-berg2 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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phy.” The disease commences usually in thefirst or second decade of life and is more com-mon in the female population,4 with a female-to-male ratio of 1.5 to 1. The atrophy is unilat-eral 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, al-

though many theories as to its pathogenesishave been proposed. Foremost among theseare infection,5 trigeminal peripheral neuritis,6

scleroderma,4 and cervical sympathetic loss.7

Pensler and colleagues8 evaluated 41 pa-tients and noted that in all patients the atro-phic changes began in a localized area andprogressed, at a variable rate, within the der-matome of one or more branches of the ipsi-lateral fifth cranial nerve. The average age at

inception of the disease was 8.8 years, and themain period of progression was 8.9 6 years.In 26 patients with skeletal involvement, themean age of onset was 5.4 years versus 15.4 years for 15 patients without skeletal involve-ment. No correlation could be established be-tween severity of soft-tissue deformity and ageof onset. Tissue from six patients who hadultrastructural analysis revealed a lymphocyticneurovasculitis with striking abnormalities of the vascular endothelium and basement mem-

brane. The alterations of the vascular basallamina of lymphocytic neurovasculitis seem toreflect chronic vascular damage with repeatedattempts 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 max-illary dermatomes). In the presence of pro-longed active disease, the soft-tissue atrophy extended to involve the whole hemiface. Casesof late-onset disease seem to be characterizedby soft-tissue atrophy primarily involving thelower face. When bony hypoplasia is present, it predominately affects the middle and lowerface, with involvement of the frontal region arelatively infrequent occurrence.

The derangement of the craniofacial skele-ton that is seen is unlikely to be solely causedby an isolated intrinsic process. Moore et al.9

surmise that the restriction imposed by theabnormal soft-tissue envelope undoubtedly compounds any primary skeletal growth distur-bance. They conclude that if the disease pro-cess involves bone, it would seem to exert aneffect on skeletal structure only during periodsof 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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soft-tissue and skeletal disturbances. The tim-ing of operation is based on correction of thedeformity after cessation of the ongoing atro-phic process, usually at least 1 year after pho-tographic monitoring records reveal no fur-ther progression of loss of volume to the face.

Soft-tissue reconstruction is directed at aug-mentation of deficient soft-tissue volume andinvolves a spectrum extending from fat injec-tion to free tissue transfer. Past treatment methods have included silicone fluid injec-tions,10 which are contraindicated because of long-term complications, and injections of li-poaspirated fat, which have met with mixedresults,11 though autologous fat injections cer-tainly have a place in the correction of mildcontour irregularities. Muscular atrophy of pedicled or free muscle flaps presents a prob-

lem for calculating the final volume needed forthe repair,12 and for this reason adipose flapsare preferred.

When large-volume correction is necessi-tated, free tissue transfer is warranted. Greateromentum free flaps have been described by Jurkiewicz and Nahai,13 who nevertheless point out the drawbacks of lack of structural strengthand gravitational descent. Inigo and col-leagues14 review their experience with dermis-fat free flaps in 35 patients with Romberg dis-ease. They used a groin free flap in 33 patients

and a scapular flap in three patients in a two-stage procedure consisting of transfer of thefree flap and defatting and repositioning 6months later. Adjuvant procedures includedtemporal fascial flaps for the frontal regionsand cartilage grafts in the piriform fossa. Thechin was corrected by either sliding osteoto-mies for projections of less than 1 cm or by alloplastic implants for projections of morethan 1 cm.

Dunkley and Stevenson15 prefer a groin flapfor soft-tissue augmentation because of its lessconspicuous donor defect and lower potentialmorbidity. Tweed et al.16 suggest that asmoother cheek contour can be achieved by placing the dermis outward. Harashina andFujino17 argue that placing the dermis sidedown should reduce gravitational sagging, oneof the major problems with soft-tissue recon-struction in this situation. The abdominal flap,a variation of the groin flap based on the infe-rior epigastric vessels, has also been report-ed.10,18 Koshima et al.19 describe their experi-ence with the deep inferior epigastricperforator flap.

Mordick and colleagues20 compared eight patients treated with dermal fat grafts andeight treated with vascularized tissue transferto determine the efficacy of the two methods.The vascularized transfers provided a greateramount of augmentation. Dermal fat grafting

was a satisfactory technique for mild-to-moderate defects. Dermal fat grafting is ashorter procedure requiring less anesthetictime, less technical expertise and support, andshorter hospital stays, whereas vascularizedtransfers that are composed of adipose tissueseem to increase in volume during growth andmay also increase with weight gain. Late intheir series, the authors lean toward augmen-tation with the scapular flap because of itslarge-caliber vessels and long pedicle. Theirpatients averaged 3.3 procedures for final

correction.Upton and colleagues21 reported their expe-rience with 30 scapular flaps for cheek recon-struction. Five of these patients had Rombergdisease. The major advantages of the scapularflap included a constant proximal vascularanatomy, a long vascular pedicle with large-caliber vessels, a large amount of available tis-sue (including bone), relatively hairless skin inmost patients, and minimal or no functionalproblems at the donor site. Major disadvan-tages included lack of sensation, poor external

cheek skin color match, and a predictably wid-ened scar at the donor site. The study pro-duced the following observations:

Deficiency of the malar prominence cannot always be corrected with soft tissue alone andoften needs bone grafting or alloplasticimplant.

Correction with extensor fascial hypertro-phy-long fascial extension must be transferredacross the midline of the upper and lower lips.

The area most consistently uncorrected isthe medial portions of the deficient upper andlower lips.

The area most consistently overcorrectedoverlies the mandibular body and ramus.

Longaker and Siebert 22 reported their expe-rience with 15 cases of Romberg disease repre-senting 16 free tissue transfers. Deepithelial-ized extended parascapular flaps with largefascial extensions of the dorsal thoracic fascia were used for reconstruction. The fascia can befolded into variable thicknesses to correct sub-tle contour defects of the upper lip, medialcanthus, eyelids, and other facial features tra-ditionally difficult to reconstruct. These exten-

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sions can be placed easily across the midline tointerdigitate with normal tissues at the bound-ary of the facial deformity.

Severe cases with bone involvement requireorthognathic surgery in addition to all of theabove procedures. A Le Fort I osteotomy can

be performed to lengthen the maxilla and im-prove the vertical dimension of the face on theaffected side. A sagittal split osteotomy can beperformed to complete the required rotation-projection of the mandible in association withan advancement or sliding genioplasty (Fig. 2).

Radiation-Induced Craniofacial Deformity

High-dose radiation is a standard form of treatment for some pediatric craniofacial tu-mors, including retinoblastoma, rhabdomyo-sarcoma, Ewing sarcoma, and neurofibrosar-

coma. It also has application in the treatment of oropharyngeal carcinoma in adults. Afterradiation treatment, patients can subsequently develop soft-tissue and bony hypoplasia of theirradiated areas. These deficiencies can be par-tially corrected by onlay bone grafting and soft-tissue reconstruction with local pedicled flapsand dermal-fat grafts in multiple stages,23 orthey may necessitate free tissue transfer (Fig.3).

Jackson and colleagues24 studied 14 children who received therapeutic radiation for malig-

nant tumors in the orbital area and who sub-sequently showed widespread craniofacial de-f or mi ti es . T he o ri gi na l t um or s w er eretinoblastoma, rhabdomyosarcoma, and em-bryonic carcinoma. Years later, maldevelop-ment of the skull, orbit, maxilla, and mandible

became apparent. Jackson et al.24 recommendthe correction of four levels of skeletal defor-mity in a single procedure, as follows:

1. frontotemporal expansion with reposition-ing of the cranial base

2. orbital expansion and repositioning3. maxillary surgery with bone grafts to the

zygoma as required4. mandibular lengthening and repositioning

Bone grafts should be inlay rather than on-lay, and soft tissue should be supplied by free

tissue transfer. At a second operation, the eyesocket and eyelids are reconstructed to allow more satisfactory rehabilitation with an ocularprosthesis. Based on their observations duringextensive skull base and orbital dissections, Jackson and colleagues24 believe that radiationhas impaired the growth of the sphenoid, which in turn has locked the upper face andprevented normal development of the facialskeleton. 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 Rombergdisease. Involvement in the distribution of the ophthalmic, maxillary, and mandibular divisionsof the trigeminal nerve has resulted in soft-tissue and bony atrophy and pigmentary skin changesof 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 thefrontal and temporal bones and soft-tissue augmentation of the middle and lower face with agroin flap free tissue transfer.



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dimensions. Craniotomy is essential to positionthe skull base correctly to accurately seat and

remodel the orbit and maxilla. Similar proce-dures and approaches to correction of thesedeformities have been described by Nwoku andKoch,25 Larson,26 Marx and Johnson,27 Guyu-ron and colleagues,28,29 and Kawamoto.30

Cohen et al.23 described their experience with reconstruction of late craniofacial defor-mities after therapeutic radiation of the headand face during childhood. Forty percent of the patients in their series required secondary procedures for improvement. The authors an-ticipate increasing the use of free tissue trans-

fer in these cases.Individuals who as children were irradiated

for hemangiomas of the face are also present-ing to plastic surgery clinics with severe cranio-facial deformities. At one time, high-beam ra-diotherapy 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 inthe adult. Reconstruction should follow theprinciples outlined by Jackson and colleagues24

(Fig. 4).

CRANIOFACIAL NEOPLASMS

Fibrous Dysplasia

The most common osseous craniofacial tu-mor encountered by plastic surgeons is fibrousdysplasia.23 an uncommon, non-neoplastic, be-

nign bone disease first described by von Reck-linghausen in 1891.31 The pathogenesis of fi-brous dysplasia involves abnormal activity of the bone-forming mesenchyme with an arrest of bone maturation in the woven bone stage,forming irregularly shaped trabecula. Muta-tions of signaling protein and increased inter-leukin-6 levels have been implicated in the pro-cess.32 The condition is usually progressiveuntil age 30, and reports of progression wellinto adulthood are not uncommon.32

Fibrous dysplasia in the cranio-orbital area

tends to be more osseous than fibrous dysplasiaof other sites. Two patterns of presentationpredominate: the monostotic form, with single-bone involvement, and the polyostotic variety, which may be associated with abnormal skinpigmentation, premature sexual development,and hyperthyroidism (Albright syndrome).The monostotic form is approximately fourtimes more common than the polyostotic formand approximately 30 times more frequent than the complete Albright syndrome. Themonostotic form typically involves the ribs, fe-

mur, tibia, cranium, maxilla, and mandible.The most often affected bones in the craniumare the frontal and sphenoid bone, and in theface, the maxilla.33,34

Posnick34 reviews current clinical perspec-tives on fibrous dysplasia and points out what

FIG. 3. Hypoplasia of the soft tissue and skeleton of thelower and middle third of the face in a 15-year-old girl afterradiation for retinoblastoma.

FIG. 4. Bilateral soft-issue and skeletal atrophy of the facein a 23-year-old woman following radiation therapy for bilat-eral retinoblastoma.



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he believes are the keys to its effectivemanagement:

• 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 architec-ture of the orbits and paranasal sinus, causingorbital displacement and exophthalmos.35,36 Incraniofacial fibrous dysplasia, the symptomsare varied and related to tumor mass. Symp-toms may include facial pain and swelling,headaches, anosmia, deafness, blindness, mal-occlusion with displacement of teeth, diplopia,

proptosis, and orbital dystopia. Cranial nervepalsies including optic nerve compression arenot uncommon.37 Eye symptoms may includeextraocular muscle palsy and trigeminal neu-ralgia secondary to compression of the thirdand fifth cranial nerves. Orbital apex compres-sion can initiate the cascade of ophthalmic venous engorgement, optic nerve atrophy, andloss of vision. Sphenoid body involvement cancause blindness as a result of compression of the optic nerve between the chiasm and opticforamen. Minor ophthalmic symptoms include

epiphora produced by occlusion of the lacri-mal duct and visible external lid deformities.38

Malignant degeneration occurs in approxi-mately 0.5 percent of patients.39 Clinical signsof malignancy consist of a rapid increase insize, pain, intralesional necrosis, bleeding, andelevation of serum alkaline phosphatase levels.The most common transformation is to osteo-genic sarcoma, but fibrosarcoma and chondro-sarcoma are also seen. The mean interval fromdiagnosis of fibrous dysplasia to evidence of malignancy is 13.5 years.38 The polyostoticform of the disease has a higher incidence of malignant degeneration, although the monos-totic form is more common in the craniofacialregion. Malignant degeneration can occurspontaneously or following radiotherapy.

Familial fibrous dysplasia or cherubism is agenetic disorder of the mandible and maxillaof the giant-cell type. It is strictly a self-limitingdisease of children that regresses without op-eration and leaves no deformity.40

In the past, conservative treatment of fibrousdysplasia was preferred, occasionally with bone-contouring procedures. Spontaneous involu-

tion will not occur, however, and early surgicalintervention when symptoms are just begin-ning may avoid extensive resection later.41

When clinically feasible, the mainstay of ther-apy is complete or near-complete resectionand reconstruction with normal autogenous

bone. In 1972, Derome42 pioneered the con-cept of total excision and immediate recon-struction of bone tumors, including four casesof fibrous dysplasia. Chen and colleagues43 dis-cussed the benefits and risks of prophylacticoptic nerve decompression before symptomsdevelop. The decision for operation in thesecases is made solely on the basis of computedtomographic findings of encroachment of theoptic canal by fibrous dysplasia. The primary justification for prophylactic decompression isthe 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 thecause of blindness to hemorrhage or mucocelesecondary to fibrous dysplasia.44 In their ownstudy of 18 patients with clinical or radiologicalevidence of optic canal involvement, Chen andassociates43 found that six patients (33 percent)had loss of effective vision in the involved eye.From this experience and a review of the liter-ature, the authors developed an algorithm fordecompression of the optic nerve in fibrous

dysplasia. Absolute indications for decompres-sion 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 op-

tic canal reduction, because of the likeli-hood of progressive growth of fibrousdysplasia

• adults presenting with no visual loss but ra-diographic evidence of optic canal reduc-tion and continuing, active fibrous dysplasia(Fig. 5)

Reconstruction after resection is typically im-mediate. Edgerton and colleagues31 describedthe use of the dysplastic bone as grafts, which,after resection, were contoured, thinned, andreplaced. These grafts of dysplastic bone seem



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to function similarly to normal autogenousgrafts, and they lack the potential for the grad-ual recurrence of bone thickening frequently seen with i n si tu bone con touri ng. Autoclaving45and cryotherapy 46,47 have beenproposed to destroy the cellular elements and yet preserve the mineral matrix beforereinsertion.

Chen and Noordhoff 48 analyzed their expe-rience with the treatment of 28 patients withfibrous dysplasia. The authors outline an oper-ating protocol that includes:

• total excision of dysplastic bone of the fronto-

orbital, zygomatic, and upper maxillary re-gion and primary reconstruction with bonegrafts

• conservative excision of bone from underthe hair-bearing skull, central cranial base,and tooth-bearing regions

• optic canal decompression in patients withorbital involvement and decreasing visualacuity (Fig. 6)

In a follow-up averaging 5.3 years, the au-thors found no recurrence or invasion of fi-brous dysplasia into the grafted bone; however,

five of 19 patients treated with reduction of alveolar dysplasia had recurrence of the defor-mity that necessitated reshaping. One patient with recurrent mandibular fibrous dysplasia was successfully treated with hemimandibulec-tomy and mandibular reconstruction with vas-cularized bone graft.

Hansen-Knarhoi and Poole49 remarked onthe difficulty of differentiating fibrous dyspla-sia from intraosseous meningioma around theorbital apex. From a review of their files, they

summarized the differences as follows:• Fibrous dysplasia commences in childhood

and early adolescence, whereas meningio-mas are diseases of middle age.

• Visual symptoms are prominent in meningi-oma cases but are uncommon in fibrousdysplasia.

• Proptosis is much more marked than orbitaldystopia in the meningioma group, but thereverse is true in fibrous dysplasia.

• Fibrous dysplasia patients have extensivefrontal bone involvement that is clinically

FIG. 5. Computed tomographic scan of a 13-year-old girl who developed sudden blindness in the right eye while takinga bath. An area of decreased density in the body of thesphenoid has eroded the right orbital wall of the right opticcanal (white arrow ). The left optic canal is also tightly stenosedby fibrous dysplasia (black arrow ). (From Chen, Y. R., Breidahl, A., and Chang, C. N. Optic nerve decompression in fibrousdysplasia: Indications, efficacy, and safety. Plast. Reconstr. Surg .99: 22, 1997.)

FIG. 6. Craniomaxillofacial bones are divided into fourzones to allow treatment planning. Zone 1, radical excisionand reconstruction.Zone 2 , optional conservative contouringor radical excision with reconstruction. Zones 3 and 4 , con-servative 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.)



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obvious; meningioma patients have no evi-dence of this.

• Pain is present in both groups and is not auseful discriminating feature.

Most fibrous dysplasia lesions can be only partly excised. Some are unresectable, arguingfor treatment methods other than operation.No medical treatment is available to cure ordefinitively halt the progression of fibrous dys-plasia. Reports of promising responses to sys-

temic treatments with the biphosphate pamidr-onate await further studies before conclusionscan be drawn.50 Clark et al.51 implanted fibrousdysplasia cells in a nude mouse model andsuccessfully decreased the size of the tumor with tamoxifen administration (Fig. 7).

Neurofibromatosis

Neurofibromatosis is a hereditary conditionoccurring 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 wasnoted 8 years previously, with progression over 6 years. The condition has been nonprogressivefor 2 years. There is no compromise to visual acuity in the left eye. (Above, right ) Postoperativeresult after reconstruction involving resection of the diseased bone of the orbit and orbitalreconstruction with split calvarial bone grafts and contouring with onlay porous hydroxyapatitegranules. (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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neurofibromatosis is applied to two clinical ge-netic disorders. The first, neurofibromatosistype 1, also known as von Recklinghausen dis-ease, is more common. The second disorder,type 2, is more rare and is known as bilateralacoustic neurofibromatosis. The two disorders

have very distinctive clinical manifestations andsome overlapping features. Mutation of geneson two different chromosomes is at the originof the two disorders. The gene for type 1 islocated on the long arm of chromosome 17;the gene for type 2 is located on the long armof chromosome 22.52 Approximately 50 per-cent of patients have a positive family history of neurofibromatosis. Transmission is autosomaldominant, with variable penetrance.

Neurofibromatosis is a benign tumor of neu-roectodermal origin with diffusion to skin, sub-

cutaneous tissue, and bone. Tumor growth isslow and irregular and is not accelerated by surgical intervention, with sarcomatous degen-eration a rare occurrence.

Surgical care often produces less than com-plete correction with some further progressionover time.53,54 Poole,53 in a series of 11 patients,stressed the high complication rate and themodest improvement in appearance that should be expected. The best cosmetic resultsare obtained in patients whose eye can be re-moved and a satisfactory bed created for an

orbital prosthesis. Patients who have vision inthe eye and wish to retain it should undergo atwo-stage procedure with conservative debulk-ing of intraorbital soft tissue. Krastinova-Lolov and Hamza52 reviewed their experience with 14cases of cranio-orbital neurofibromatosis. They noted that the partial or complete absence of the greater wing of the sphenoid is responsiblefor enlargement of the sphenoidal fissure, witha consequent defect in the posterior wall of theorbit. Brain tissue, generally the temporal lobe,may herniate into the orbit, further increasingexorbitism and causing pulsation of the eye.The orbit is enlarged, with hypoplasia of thesupraorbital and infraorbital rims and the zy-gomatic arch. When the globe is involved withthe neurofibroma, there may be buphthalmos,severely diminished visual acuity, and evenblindness. Associated symptoms are irritation,pain in the eye, and moderate-to-severe epi-phora. Enophthalmos may occur from enlarge-ment of the inferior orbital fissure, which al-lows the orbital contents to prolapse into theinfratemporal fossa and increases the size of the orbital cavity.

Snyder et al.55 described the experience of the Australian Craniofacial Unit in correcting14 cases of orbital neurofibromatosis. Of note was their finding of resorption of the bonegraft used to reconstruct the greater wing of the sphenoid in four cases, which led to recur-

rence of globe pulsation. Subsequently, the au-thors began using titanium mesh in the recon-struction. Jackson et al.56 presented theirexperience with orbitotemporal neurofibroma-tosis in 24 patients and provided a classificationand treatment scheme. They grouped the con-dition into three categories, each of which re-quires a different treatment: (1) orbital soft-tissue involvement with vision in the eye, (2)orbital soft-tissue and significant bone involve-ment with vision in the eye, and (3) orbitalsoft-tissue and significant bone involvement

with a blind or absent eye (Fig. 8). In addition,the authors reported their follow-up observa-tions over a 12-year period.

Craniofacial Tumors

Many different kinds of neoplasms can po-tentially involve the craniofacial skeleton, in-cluding fibrous dysplasia, simple osteomas;benign angiofibromas; neural tumors, specif-ically, meningiomas with extracranial erosionand encapsulated neurofibromas, schwanno-mas, and neurilemmomas57 –59; cutaneous

carcinomas; osteogenic sarcomas; and rhab-domyosarcomas.The use of craniofacial techniques in the

ablation of craniofacial tumors arose from theevolving application of such techniques in con-genital craniofacial conditions. As clinical ex-perience mounted, the following principles forthe surgical management of craniofacial neo-plasms evolved:

It is now possible to resect lesions that werepreviously considered unresectable.60

Tumor position should be related to thebase of the skull.61

Tumor resection demands strict adherenceto guidelines designed for tumor location, celltype, and stage, and the concept of completeen bloc excision. The latter is possible throughregional orbitotomies for confined orbital tu-mors, bifrontal craniotomy, and facial incisions(e.g., Weber-Ferguson) when necessary.

There is a significant risk of losing the fron-tal bone flap to infection.62,63

The transfacial approach64 may reduce thefrequency of infectious complications.

It is essential to prevent communication be-



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tween the sinuses or nasal cavity and the me-ninges or intracranial dead space. The best way to achieve this is by interposing thin, vascular-ized tissue, such as a pedicled paracranial flap

for very small defects, a galea frontalis flap foranterior defects,65 and a temporalis muscle66 ortemporoparietalis fascial flap for lateral andcentral defects.

The tissue that isolates the intracranial con-tents can also be supplied by a microsurgicalfree flap.67,68 In addition to preventing commu-nication with the oral cavity and nasopharynx,free flaps offer protection for vital structuresand bring large amounts of soft-tissue bulk forcontouring. These flaps can be transferred sec-ondarily to treat complications, but they prob-ably should be raised prophylactically at thetime of the ablative procedure. A 1989 survey 69

showed the use of primary free flaps in as many as 50 percent of cases of intracranial tumors.

Lund and colleagues70 reviewed the resultsof treatment in 209 patients with craniofacialtumors with up to 17 years of follow-up. Malig-nant conditions predominated (68 percent),the most common of which was adenocarci-noma, although 41 different pathological find-ings were encountered. Nasal obstruction (55percent) and epistaxis (38 percent) were themost common presenting symptoms; orbital

symptoms were manifest in 56 percent of pa-tients. Resection involved a craniofacial ap-proach, with a frozen section used to ascertaininvolvement of the orbit necessitating resec-

tion. No orbital resection was necessary in 69percent of the patients. In 11 percent, the or-bital periosteum was removed and the globe was preserved based on the results of the intra-operative frozen section; 20 percent of the pa-tients had orbital clearance, and 80 percent showed no dural involvement. Survival usingthis approach was 51 percent at 5 years and 41percent at 10 years. In a precraniofacial era,survival results of 23 percent to 38 percent were expected.70 The authors provide an algo-rithm 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 [email protected]

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FIG. 8. Neurofibromatosis involving the right orbit, with extensiveorbital soft-tissue and bone involvement anda blind right eye.



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Self-Assessment Examination follows onthe next page.



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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 hypoplasiaC) 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 infectionB) Parasitic infestationC) Lymphocytic neurovasculitisD) Sympathetic denervationE) 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 diagnosisB) Within 3 months of onset

C) Within 6 months of onsetD) As soon as possible after cessation of progressionE) One year after documented cessation of progression

4. FOLLOWING SOFT-TISSUE RECONSTRUCTION OF THE CHEEK AND LOWER FACE IN PATIENTS WITHROMBERG DISEASE, THE AREA MOST OFTEN UNDERCORRECTED IS THE: A) Malar prominenceB) Central portion of upper and lower lipsC) Central cheek D) Area over ramus of mandibleE) Area of body of mandible

5. IN THE MONOSTOTIC FORM OF FIBROUS DYSPLASIA, THE MOST OFTEN INVOLVED FACIAL BONE IS THE: A) ZygomaB) MaxillaC) MandibleD) SphenoidE) Palatine

6. THE SINGLE ABSOLUTE INDICATION FOR DECOMPRESSION OF THE OPTIC NERVE IN PATIENTS WITHFIBROUS DYSPLASIA IS: A) Clinical visual lossB) Radiographic evidence of sphenoid involvementC) Radiographic evidence of skull base involvementD) Radiographic evidence of optic nerve compression

E) Presence of papilledema


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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 approachB) Use of frozen section to ensure complete resectionC) Use of autologous bone graftsD) Prevention of communication between nasal and cranial spacesE) Perioperative antibiotics

To complete the examination for CME credit, turn to page 1590 for instructions and the response form.

common craniofacial anomalies. conditions of craniofacial atrophyhypoplasia and neoplasia

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