116 Int J Oral-Med Sci 11(2):116-119, 2012

Case Report

True Hemifacial Hypertrophy ̶ A Case Report and Review of Literature

Nitin Verma1, Jeevan Lata1, and Ramninder Bawa2

1Department of Oral and Maxillofacial Surgery, Punjab Government Dental College and Hospital, Amritsar, Punjab, India 2Consultant Prosthodontist, Amritsar, Punjab, India

Article History Abstract

Received 10 June 2012 Hemifacial hypertrophy is a rare congenital disease involving hypertrophy of both soft and Accepted 3 August 2012 hard tissues of the face, and is usually discovered soon after birth. This pathology may be classified as either true or partial hemifacial hypertrophy. Many conditions resemble hemifacial hypertrophy, potentially complicatingdiagnosis.We present a case of true hemifacial hypertrophy in a 6-year-old girl with radiological findings, differential diagnosis and a brief review of the literature. Myohyperplasia, reported previously as a separate Keywords : entity, may actually represent a form of true or partial hemifacial hypertrophy. true hemifacial hypertrophy; partial Management of true hemifacial hypertrophy requires meticulous planning, including hemifacial hypertrophy; dentition multiple treatment modalities.

Introduction sides has been seen in some cases(3-5). It is important to The human body generally shows morphological symme- mention that all these structures are neither necessarily try, which changes with time and circumstances within a involved nor enlarged to the same degree, as stated by definitive range. However, in hemi-hypertrophy, the affected Stafne and Lovestedt(6) and Hanley et al.(7). side grows faster and at a rate to proportional the unaffected Sometimes this condition may involve just the overlying side. This means the discrepancy between right and left musculature, in which case the condition is referred to as sides remains constant until the process stops with the myohyperplasia (8). This study reviews the literature, cessation of growth. discusses the etiology and classification and adds another Hemifacial hypertrophy is an uncommon developmental case of hemifacial hypertrophy to the literature. disorder, initially described by Meckel in 1822 (1). Since then, over 250 cases of body and facial hemifacial hypertro- Etiopathogenesis phy have been reported in the literature. Classically, this Multiple etiological factors have been implicated in the condition presents as a unilateral, localized overgrowth of development of hemifacial hypertrophy, such as hereditary, facial soft tissues, and teeth. Of the various anatomical, vascular and lymphatic abnormalities, endocrine classifications proposed, Roweʼs classification(2) is consid- dysfunction, altered environment, disturbances of the ered the simplest and most practical. He classified hemifa- central nervous system and chromosomal abnormalities. cial hypertrophy into true and partial. True hemifacial However, most of these have not gained wide acceptance hypertrophy must involve the contents between and due to a lack of precise evidence(9, 10). includingthe boundaries of the viscerocranium: facial bones; As a result, etiological heterogeneity may have been facial midline; inferior borders of the and ear, but responsible for the varied clinical features, affectingsingle not involvingthe eye. Partial facial hemifacial hypertrophy or multiple systems and the degree of tissue involvement. thus is limited to only one structure or does not involve all facial tissues. Case report Although, crossing the midline to involve parts of both the An 8-year-old girl was referred by a local dentist for an opinion regarding enlargement of the left side of the face. Correspondence to : Nitin Verma The condition was noted at birth and asymptomatic. She E-mail : [email protected] was the youngest of 2 normal siblings from normal parents Int J Oral-Med Sci 11(2):116-119, 2012 117

Fig. 3

development and eruption of the permanent teeth. All left lower permanent teeth except the second premolar and second molar were present in the oral cavity. The changing dentition on the left side was equivalent to that of an 11- to 12-year-old girl, while the right side was Fig. 1 normal for the patientʼs age. No midline deviation or canting of the occlusal plane was evident. However, the patient showed a slight anterior open bite. Permanent teeth on the uninvolved (right) side remained unerupted, except the mandibular first molar and central incisor. Exact compari- son of the teeth on both sides was thus not possible. However, teeth on the involved (left) side seemed to be larger than normal on measurement. The buccal mucosa was normal in appearance. The tongue showed unilateral enlargement with a sharp midline demarcation. The papillae were enlarged and resembled soft excrescences (Fig.4). Fig. 2 Tongue movements and sense of taste appeared normal. Radiographically, orthopantomography showed increased without any family history of the condition. The mother did deposition of on the left side of facial structures, not report any abnormalities duringpregnancyand particularly the mandible and . The left side also delivered the girl at full term. showed a lower orbital level, with prominence of the Examination revealed unilateral enlargement of the left zygoma. Significant bone growth was seen between root side of face, extendingfrom the infraorbital marginto the apices of the left mandibular teeth and the inferior alveolar base of the mandible, with a right-side shift of the chin. The canal (Fig.5). The left mandibular condyle and coronoid left side of the lower was enlarged with drooping at the process appeared normal. corner of the mouth (Fig.1). Movements of other facial Consideringthe ageof the patient and the expected muscles and bilateral vision were all normal. The overlying growth and development, keeping the patient under soft tissues showed significant hypertrophy. No temporo- observation was considered the best course, with recon- mandibular joint dysfunction was detected, and no discrep- structive procedures to be planned and performed only after ancies in the range of mandibular motion were noticed (Fig. the completion of physiological growth. These surgical 2). procedures would most likely involve osteotomies and/or Intra-orally, the left side (involved side) of the dentition orthognathic surgery, soft tissue debulking, particularly of and tongue were significantly affected. The dentition was masticatory, glandular and subcutaneous tissues, while abnormal on the involved side (Fig.3) showing precocious attemptingto preserve neuromuscular functions. 118 Int J Oral-Med Sci 11(2):116-119, 2012

unilateral enlargement of the maxilla and fibrous hyperpla- sia of the overlying gingival tissues. All these conditions should be distinguished from hemifacial hypertrophy on the basis of specific clinical and radiographic findings.

Discussion Hemifacial hypertrophy is a rare congenital disorder characterized by hyperplasia of tissues of one or more parts of the facial tissues, rather than hypertrophy. Some authors have reported heredity as an etiological factor in hemifacial hypertrophy(11), but no such contribution was established in the present case. Indeed, of the various theories suggested to explain the etiology of this condition, none was found to be relevant(9, 10). Our patient was a girl with left-side involvement, concurring with the findings of Ringrose et al(5). Whereas Fig. 4 some studies state the opposite, males are more commonly affected than females and the right side is more commonly involved than the left (2, 12). Rowe (2) reports an equal distribution of the disease between sexes. Clinical features of the patient were typical, as reported by various authors, particularly enlargement of the teeth, jaws and overlyingsoft tissues on the left side of the face. Other findings like an enlarged, thick tongue along with enlarged were also present on the involved side. However, Lawoyin et al.(13) have reported that neither of her cases of congenital hemifacial hypertrophy showed tongue enlargement. Larger roots, root resorption, open bite, with or without uni- or bilateral ankylosis have been observed infrequently(9). Buccal mucosa was found to be

Fig. 5 normal. However, Miles(14) reported velvety, soft pendu- lous folds in the buccal mucosa. Extraorally, the skin did not Differential diagnosis show any kind of abnormality on the involved side, Various entities showingsimilar manifestations should be concurringwith the findingsof Gorlin and Meskin(1) and excluded. These include: hemiatrophy, showingunilateral Lawoyin et al. (13). Conversely, Hayashi S et al. (15) underdevelopment with muscle weakness and neurological reported skin abnormalities in a large number of reports deficit; fibro-osseous lesions and other bony tumors, which (65.8% of Japanese reports of hemihypertrophy). do not involve the soft tissues and dentition; and vascular Ringrose et al. (5) analyzed 129 cases, finding the and lymphatic malformations, cutaneous lesions, and neuro- followingas the most common features: mental deficiency; fibromatosis, which are usually bilateral, involve different skin abnormalities; varicose veins; and compensatory body parts and are diagnosed histologically. Other syn- scoliosis. Other clinical findings reported in the literature are dromes such as Beckwith-Wiedemann syndrome, Russell- thickened hair and skin, ipsilateral nevi and telengiectasis Silver syndrome, Klippel-Trenaunay syndrome all have (9), macrodactly, polydactyly, syndactyly, and club foot(12). distinguishing features other than body asymmetry (has Pfister et al. (16) showed that abdominal tumors are been deleted). Segmental odontomaxillary dysplasia shows usually present in hemifacial hypertrophy of the body. Int J Oral-Med Sci 11(2):116-119, 2012 119

However, in isolated hemifacial hypertrophy, not even a 61: 870-879, 1962 single case has been disclosed with abdominal tumors(17). 2. Rowe NH. Hemifacial hypertrophy - review of the literature As our patient was of poor socioeconomic status and neither and addition of four cases. Oral SurgOral Med Oral Pathol, 15: she nor her parents ever complained of any abdominal 572-587, 1962 3. Fraumeni JF. Hemihypertrophy, in Bergsma D (ed.): Birth problem, we did not perform ultrasonography, although we defects, Baltimore, Williams & Wilkins, 466, 1973 explained to her parents that she might require this 4. Gorlin RJ, PindborgJJ, Cohen MM. Syndromes of head and examination for future management. Hemifacial myohyper- neck, 2nd ed. New York, McGraw Hill, 345-348, 1976 plasia(8) has been added as a new clinical findingin this 5. Ringrose RE, Jabbour JT, Keele KK. Hemihypertrophy. disease, where hyperplasia is only limited to the facial Paedatrics, 36: 434, 1965 musculature. Generally, no treatment is required hemifacial 6. Stafne EC, Lovestedt SA. Congenital hemihypertrophy of the hypertrophy unless cosmetic problems are involved. Long- face. Oral Surg, 15: 184, 1962 term management of this patient should begin with 7. Hanley FJ, Floyd E, Parker D. Congenital partial hemihyper- psychological guidance and emotional support to adapt the trophy of the face: report of 3 cases. J Oral Surg, 26: 136; 1968 8. Lee S, Sze R, Murakami C, Gruss J, Cunningham M. Hemifacial patient to beingconfident in her environment. After growth myohyperplasia: description of a new syndrome. Am J Med ceases, corrective surgery consisting of soft-tissue debulk- Genet, 103: 326-333; 2001 ing, facelift, and orthognathic surgery should be planned and 9. Bergman JA. Primary hemifacial hypertrophy. Review and performed. Every attempt should be made to preserve report of a case. Arch Otolaryngol, 97: 490-494, 1973 neuromuscular functions. 10. Khanna JN, Andrade NN. Hemifacial hypertrophy. Report of 2 Radiography may not reveal the amount of soft tissue cases. Int J Oral Maxillofac Surg, 18: 294-297, 1989 involvement, and should be carefully assessed. Nowadays, 11. Beneze J, Walawska J. Dominant inheritance of hemifacial this can be easily done with the help of 2- and 3-dimensional hyperplasia associated with strabismus. Oral Surg, 35: 489- computed tomography. Hall(18) has suggested the use of a 501, 1973 12. Islam MN, Bhattacharyya I, Ojha J, Bober K, Cohen DM, device known as prosopometer, which precisely indicates Green JG. Comparison between true and partial hemifacial the extent of deformity and necessary surgical corrections hypertrophy. Oral SurgOral Med Oral Pathol Oral Radiol required in all the planes. Endod, 104: 501-509, 2007 No formal report of malignancy has been published in the 13. Lawoyin JO, Daramola JO, Lawoyin DO. Congenital hemihy- literature. Except for a few cases of fatty deposits recurring pertrophy. Report of two cases. Oral SurgOral Med Oral in the cheeks, no bony regrowth has been reported Pathol, 68: 27-30, 1989 postoperatively(12). 14. Miles AEW. A case of unilateral gigantism of the face and teeth. Br Dent J, 77: 197-199, 1944 Conclusion 15. Hayashi S, Tomioka T, Aoki H, Nakakuki K, Mekaru K. hemifacial hypertrophy. Report of two cases. Oral SurgOral A wide variety of conditions can resemble hemifacial Med Oral Pathol, Jun; 35(6): 750-761, 1973 hypertrophy. Importantly, cases where asymmetry be- 16. Pfister RC, Weber AL, Smith EH, et al. Congenital asymmetry tween sides is limited are more difficult to classify as (hemihypertrophy) and abdominal disease. Radiology, 116: physiological or pathological. Clinical and radiographic 685, 1975 information must always be kept in mind to achieve an 17. Horsewell BB, Holmes AD, Barnett JS, Hookey SR. Primary accurate diagnosis. Finally, treatments involving reconstruc- hemihypertrophy of the face: Review and Report of 2 cases. J tive procedures should only be performed after the Oral Maxillofac Surg, 45: 217-222, 1985 cessation of physiological growth. 18. Hall HD. Facial Asymmetry, in Bell WH (ed). Surgical correction of dentofacial deformities, Philadelphia WB Saunders, Vol. 3, 153, 1985. References 1. Gorlin RJ, Meskin L. Congenital hemihypertrophy. J Paediatr,