An unusual case of hemifacial atrophy

n

usu Robin A. Whyman, BDS, FRACDS,” Terence CA. Doyle, MB ChB, MD, DDR, BA, DipObst, FRACR,b Winifred J. Harding, BDS, &fDS,e and Martin M. Ferguson, BSc, MB ChB, BDS, FDSRCFS,* Dunedin, New Zealand SCHOOL

A case unusual region results

OF DENTISTRY

AND

OTAGO

MEDICAL

UNIVERSITY

OF OTAGO

of hemifacial atrophy in a lo-year-old boy is described. The presentation in this patient is because the lesion is extremely localized, and the abnormalities of teeth in the affected are more severe than previously recorded. Alternative diagnoses are considered, and the of a computed tomographic scan with three-dimensional reformatting are presented.

(ORAL SURG ORAL MED ORAL PATH~L

1992;73:564-9)

H

emifacial atrophy was first described in 1825 by Parry.’ But it is Romberg whose name became associated with the condition when he described it in greater detail in 1846.2 It is an uncommon condition, with 733 cases reported in the literature up to 1964. Women are more frequently affected than men. Bilateral atrophy is extremely rare.3 The onset of hemifacial atrophy is usually apparent by the first or second decade of life, and the condition progresses slowly, with a maximal degree of atrophy that often occurs after 2 to 10 years. Alternatively, the condition may “burn” itself out at a very early stage and result in minimal deformity.3 Characteristically, there is regional atrophy of the skin, subcutaneous tissue and musculature. When the onset occurs before the second decade of life, the underlying bone and cartilage may also be involved.4 A sharply demarcated line between normal and abnormal skin develops, the so called coup de sabre,5 and the involved area varies from a discrete lesion to widespread, extensive malformations.4 Alopecia and pigmentation of the involved skin often appear.5 In addition to the obvious facial atrophy, a variety of accompanying conditions have been reported: ocular changes in 10% to 35% of cases4; neurologic disturbances, which include focal epileptiform seizures and trigeminal neuralgia; and ipsilateral progressive body atrophy.s Oral manifestations include atrophy aPostgraduate student, Department of Oral Medicine and Oral Surgery, School of Dentistry. bProfessor and Departmental Head, Department of Radiology, Otago Medical School. CVisiting lecturer, Department of Orthodontics, School of Dentistry. dProfessor and Departmental Head, Department of Oral Medicine and Oral Surgery, School of Dentistry. 7/13/35010

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of half of the lip and tongue, shortening of the body and/or ramus of the mandible, retarded tooth eruption, and atrophic tooth roots.6-9 The etiology of hemifacial atrophy has been the subject of numerous theories, which include heredity, infection, trauma, sympathetic malfunction, trigeminal neuritis, and association with a connective tissue disorder, particularly scleroderma. IHowever, none of the theories withstands thorough investigation, and currently the causes of hemifacial atrophy remain unresolved.3, 5 This report concerns a young male patient with hemifacial atrophy. The case is unusual because of the localized involvement of a small area of the face but the particularly severe disturbances to the growth and development of some of the teeth in the affected region. CASE REPORT A lo-year-old white boy was referred to the oral medicine clinic of the University of Otago School of Dentistry by his orthodontist in May 1990. There was concern at the delayed eruption of teeth in the lower right quadrant and a disturbance in the development of the right mandible that had resulted in a facial asymmetry. At approximately 4 years of age the boy’s mother had noted the development of an area of light brown pigmentation over the right side of his chin but had not noticed any progression of this in recent years. He had received regular dental care from the age of 2% years with no mention in the early dental records of any abnormal development in the deciduous dentition, although “some problems,” of an undefined nature were recorded during restoration of the lower right first deciduous molar tooth, which made the restoration difficult and ultimateiy led to extraction of the tooth before the boy’s referral to the clinic. Growth and development had been otherwise unremarkable, and a review of the boy’s medical history revealed that

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he had a mild asthmatic condition which he treats with salbutamol and beclomethasone inhalers. The patient is the older of two children; there is no apparent abnormality in his younger sister or their parents. On examination, the patient had a region of light brown pigmentation on the skin, approximately 40 X 45 mm, with a slightly pinched appearance that extended down and back from the right side of lthe lower lip over the chin (IFig. 1). There washypoplasiaof the underlying dermaland subcutaneoustissue,andthe pigmentedregionof skinwasdevoid of any facial hair. This wasconfirmedby closeexamination under a microscope. Clinically, the right sideof the mandiblewassmallerthan the left, which resultedin a minor degreeof facial asymmetry. Full examination of the cranial nerves revealed no abnormalities.Visual acuity, eye movements,fundi, and mediawerenormal bilaterally, hearingwasnormalon audiometric testing, and the tympanic membraneswere healthy. Intraoral soft tissueswere normalexcept for thinnessof the tissuesassociatedwith the lower lip. Circumoral muscle function wasnormal, and clear salivary flow co’uldbe establishedfrom all major salivary glands.The dentition wasin the early mixed stageof development,moderately restored, but free of caries. The following teeth1 were present: 6EDC21 6EC21

12CDE6 12 CDE 6

The lower right first molar was tilted mesially and impactedbeneath.thelower right seconddeciduousmolar. The occlusalplaneof the lower right quadrantwasslightly lower than that of the left, with a resultantovereruptionof teeth in the upperright quadrant.The lower dentalmidline wasdeviatedto the right by the width of onehalf of a tooth, andboth archesshowedsignsof severecrowding(Fig. 2, A and B). Radiologic examinationconfirmed that the right body andramusof the mandibleweresignificantlyshortenedand had lessdepth than on the left side. The lower right first molartooth had ext.remelyshortroots-one third of normal with almostfully closedapices.The lower right caninewas curved mesially,while the lowerright first and secondpremolarswereextremelysmallandappearedmorphologically morelike compoundodontomes(Fig. 38, A andB). The lower right secondmolar wasbehindthe lower left secondmolar in developmentbut otherwiseappearedto benormal.There wasno evidenceof a lower right third molar tooth bud, although the correspondingbud was presenton the left. Dental developmentof the maxillary arches and left mandibularquadrant wasradiologically normal (Fi.g. 4). Radiographsof both wrists showedequal development bilaterally and were consistentwith a skeletal age of 10 years. Follow-upradiographsafter 6 monthsshowedno a.pparent developmentin the lowerright premolarsor first molar, althoughdevelopmenthad proceedednormally in the other quadrants.A routine hematologyexamination(full blood count, erythrocyte sedimentationrate, folate, vitamin Bi2, and ferritin) aswell asbiochemistry(calcium, phosphate, albumin, alkaline phosphatase,and serumproteins) and

Fig. 1. Pinched,pigmentedskin that extendsfrom right sideof lower lip over chin.

immunology(immunoglobulinsand autoantibody screening for ANA, anti smoothmuscle,anti-parietal cell, antiribonucleoprotein,anti+% A and SS B and rheumatoid factor) testsrevealedonly a mildly elevatedimmunoglobulin E, probably related to the patient’sasthma. A computedtomography (CT) scanwith three-dimensionalreformatting confirmed marked hypoplasiaof the right mandiblethat involvedthe body, ramus,andcondylar head(Fig. 5, A, B and C). The scanshowedno evidenceof hypoplasia or asymmetry in other facial bonesor the craniumand revealedno abnormalitiesin the cranial hemispheres,eyes,or soft tissueof the headand neck, except for the tissuesthat overlie the right sideof the chin. It was not possibleto differentiatewhetherhypoplasiaof the muscleor connectivetissuehadcausedthe thinnessof thesetissues. A diagnosisof hemifacialatrophy wasmade,andto date managementhasinvolved routine dental careand observation while further growth and developmentare awaited. DISCUSSION Unilateral wasting of skin, subcutaneous tissue, and muscleis characteristic of hemifacial atrophy and localized scleroderma (morphea), and similar unilat-

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of hemifacial atrophy but has severe dental involvement, consideration should be given to the characteristics of those alternative diagnoses. Hemifacial atrophy and localized scleroderma are believed by many to be variations of the same condition, and Reess suggests that much of the confusion has arisen through the use of inexact eponyms such as Romberg’s disease.Localized scleroderma appears as one or more well-defined, elevated, or depressed skin patches. These may be white or yellowish with a violaceous halo, variable in shape, and located on the chest, thighs, or as linear bands on the face, forehead, chest, trunk, or extremities.‘O Unlike progressive systemic sclerosis, involvement is limited to the affected area, with no systemic involvement. If localized scleroderma is active during a growth phase, development of the dentition may be affected.‘” In an attempt to reduce the confusion of similarities between hemifacial atrophy and localized scleroderma, Rees5 proposed the classification of hemifacial atrophy on the basis of the presence or absence of inflammation; definite skin changes; associated lesions of the eyes, body, or organ systems; and identifiable causes such as congenital defects or trauma. Not all patients with hemifacial atrophy or localized scleroderma will exhibit all the characteristics and it is probable that a significant number will have only a few localized features. These patients can be described as microforms of the condition and, with this as a case in point, serve to highlight the similarities between the two. Congenital anomalies in structures derived from the first and second branchial arches are known as hemifacial microsomia or jirst and second branchial arch syndrome. t2 Hypoplasia of the mandibuIar condyle, ramus, and associated soft tissues with delayed dental development on the affected side are present in this patient, but there is no evidence that other structures from the first and second branchial arches are affected. Hypoplasia of the zygomatic arch, body, and associated soft tissues, microtia, and seventh nerve palsy are common features of hemifacial microsomia, although microforms of the condition exist and not all features are necessarily seen in each case. In this patient the disturbances associated with the right mandible were not obviously congenital, given the paFig.

2. A, Crowdingof maxillary and mandibulararches,

lossof lower right first deciduousmolar, and impactionof lowerright first permanentmolar. B, Deviation of lowerincisormidlineto right and slight overeruptionof maxillary right posteriorteeth. era1facial hypoplasia may be seen in hemifacial microsomia and even regional odontodysplasia. Since

this patient does not exhibit extensive facial features

tient’s history and the relatively normal growth and development of the right mandibular deciduous dentition. In addition, the skin changes in this patient, particularly pigmentation and alopecia, are not consistent with hemifacial microsomia or its embryologic basis. Regional odontodysplasia is a disorder of tissues of dental origin, which primarily affects the deciduous dentition and causes distinctive clinical and radiographic appearances in affected teeth. Teeth are

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An unusual caseof hemifacial atrophy

Fig. 3, A and B Atrophic roots of lower right first molar, B lack of recognizable morphology in the developing second premolar, extremely small develloping first premolar without root formation and mesial curvature.of developing canine.

Fig. 4. Normal dental development in both maxillary quadrants and the lower left mandibular quadrant is contrasted against abnormal dental developrnent of lower right quadrant and hypoplasia of lower right body of mandible.

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Fig. 5. Right (A) and left (ES)profile views of three-dimensional reformatted skuli confirm marked hypoplasia of right body, ramus, and condylar head of mandible. C, Comparison of left and right mandibular condyles reveals severe hypoplasia on right.

ch ara.cteristically discolored yellow, yellowish brown, or brcown, and radiographically have been described as ‘k host teeth” with very thin enamel and dentine, iai w pulp spaces, and short roots with open apices.13

This patient apparently had a normal deciduous dentition, and the appearance of the abnormal permanent teeth does not correspond with those of reg ional odontodysplasia. Skin pigmentation and alopeci: a are

An unusual case of hemijacial

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inconsistent with the etiologic factors of regional odontodysplasia. CT scans with three-dimensional reformatting have significantly increased the information available from imaging techniques of skeletal and soft tissues. They provide good documentation of a clinical situation and may be used for later comparison after growth or surgical correction. The images helped to determine the extent of bony involvement in this patient and facilitated a thorough examination of the skull, facial bones, their associated soft tissue coverage, and the brain. It was only after analysis of the axial and three-dimensionally reformatted CT scans tha.t the extent of this lesion could be definitively determined and the diagnosis of hemifacial atrophy confirmed. No other cases of hemifacial atrophy with threedimensionally reformatted CT scans appear to have been reported to date, although this technology does help to determine the extent of involvement in these cases. However, although the CT scan also allows analysis of the cerebral hemispheres, orbits, and ocular globes for symmetry and abnormality,4 Asher and Berg14 found that in a series of three CT brain scans for patients with hemifacial atrophy, the degree of neurologic and facial disturbance did not appear to correlate with the laterality or extent of the CT abnormalities within the brain. Hemifacial atrophy can affect dental growth and development and cause retarded tooth eruption, atrophic root formation,‘j, s, 9 and associated disruptions to the development of the occlusion in some cases.7 Dental growth disturbance in this patient is localized to the posterior of the right mandibular quadrant but is more severe than previously reported. The lower right first permanent molar has atrophic roots, while the lower right canine has disturbed root development that caused a sharp midroot bend. Both of these teeth are retarded in their eruption rate. As a consequence of the altered growth in the right mandible, failu.re of the first permanent molar to erupt correctly, and the early loss of the first deciduous molar, there has been a significant disturbance in development of the occlusion, which causes a lower incisor midline shift to the right and a compensatory overeruption of teeth in the right maxillary quadrarnt. The effects on this patient’s lower right premolars are even more severe, however, and have not been reported previously in hemifacial atrophy. Neither premolar has evidence of root development, the crown of the first premolar is extremely small, and no crown morphology can be distinguished radiographically in the second premolar. Indeed, the second premolar appears more as a compound odontome.

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The lower right premolars cannot be expected to erupt, and this will have serious implications for the development of the lower right quadrant and the dentition as a whole. Furthermore, it is uncertain at this stage how much the right mandible will develop, and therefore the effect it will have on the development of the right maxilla, right facial contour, the occlusion, and the dentition as a whole is uncertain. Consequently, no active intervention is planned until further growth and development have occurred, at which time a thorough reassessment will be made and treatment will be planned accordingly. We are grateful to Professor R.J. Gorlin, University of Minnesota, and Dr. B.J. Baum, National Institute of Dental Research for their comments which assistedwith the diagnosis of this patient’s condition. We also thank Mr. LA. Stewart, Department of Otolaryngology, and Associate Professor A.C.B. Molteno, Department of Ophthalmology, Dunedin Hospital for their examination of the patient.

REFERENCES 1. Parry CH. Collections from the unpublished medical writings of the late Caleb Hillier Parry. Vol. 1. London: Underwood, 1825:478. 2. Romberg MH. Trophoneurosen Klinische Ergebnisse. Berlin: A. Forstner, 1884:75-81. 3. Rogers BO. Progressive hemifacial atrophy: Progressive focal hemotrophy: Romberg’s disease: a review of 772 cases. Proceedings of the third international congress of plastic surgery. Amsterdam: Excerpta Medica Foundation, 1964:681-9. 4. Miller MT, Sloane H, Goldberg MF, Grisclano J, Frenkel M; Mafee MF. Progressive hemifacial atrophy (Parry-Romberg disease). J Pediatr Ophthalmol Strabismus 1987;24:27-36. 5. Rees TD. Facial atrophy. Clin Plast Surg 1976;3:637-46. 6. Gorlin RJ, Cohen MM, Levin LS, eds. Syndromes of the head and neck. Oxford: Oxford University Press, 1990:819-22. 7. Foster TD. The effects of hemifacial atrophy on dental growth. Br Dent J 1979;146:148-50. 8. Glass D. Hemifacial atrophy Br J Oral Surg 1963-64;1:194-9. 9. Rushton MA. An early case of hemifacial atrophy. ORAL SURG ORAL MED ORAL PATHOL 1951;4:1457-60. 10. Shafer WG, Hine MK, Levy BM, eds. A textbook of oral pathology. Philadelphia: WB Saunders, 1983:846. 11. Foster TD, Fairburn EA. Dental involvement in scleroderma. Br Dent J 1968;124:353-6. 12. Murray JE, Kaban LB, Mulliken JB. Analysis and treatment of hemifacial microsomia. Plast Reconstr Surg 1984;74:18699.

13. Crawford PJM, Aldred MT. Regional odontodysplasia: a bibliography. J Oral Path01 Med 1989;18:251-63. 14. Asher SW, Berg BO. Progressive hemifacial atrophy: report of three cases,including one observed over 43 years and computed tomographic findings. Arch Neural 1982;39:44-6. Reprint

requests:

Robin A. Whyman, BDS, FRACDS Department of Oral Medicine and Oral Surgery School of Dentistry University of Otago P.O. Box 647 Dunedin, New Zealand