Hemifacial lipodystrophy

oralmedicine Editor. JAMES W. LITTLE, D.M.D., M.S.D. Deparrmetlt of’ Ord Diagnosis mnd Oral Medic,itw i!Jni~~er.si~yof’ Kentucky Lexington, Kentuchy 40506

Hemifacial lipodystrophy Report of a case B. Reed-Peterserl, D.D.S.. Copenhagen, Denmurk

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Lipodystrophy, which may be subdivided Into a partial and a total form, IS not a commonly disorder. One patient is presented in whom the lipodystrophy was not only confined to the even to one side. Progressive hemifacial atrophy was excluded by roentgencephalometric and electromyography. It is suggested that the reported entity be considered as a separate under the name of hemifacial lipodystrophy

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ipodystrophic disorders have been subdivided inlo two groups: the progressive or partial form and the total form. PROGRESSIVE

LIPODYSTROPHY

Barraquer’ has been credited with the tirst genuine description, in 1906, of a case of partial lipodystrophy. This was followed in 1911 by the detailed description. by Simons,’ of another such patient. The disorder has since been termed the Barraquer-Simons type of the disease. In 1964 Senior and Gcllis.:3 in their cornprehensive review. estimated that more than 300 case> had been published. The disease predominantly affects females at a ratio of 4: I .’ The onset is most frequently between the ages of 5 and IS years. 1Characteristically. the

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seems. in any given patient, to have reached its maxlma1extent within 1X months to 6 qears. after which it is stationary.’ The facial lipodystrophy may be appalling to the patient, and treatment has comprised a build-up of the dentures with wings to fill in the cheeks.I Plastic hurgery with transplantation of dermis or dermis-fat has been performed in single cases, but with dubious recults. ( The patients have a normal life expectancy if they remain free of renal disease. This. however, may complicate the lipodystrophy.” Furthermore, some of the components of the syndrome of total lipodystrophy may be present in these patients as well.” Total lipodystrophy

Since the syndrome of total lipodystrophy was first dewrihwi

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Hemijiiciallipodysrrophy231

Volume 47

Number3

Fig. 1. Depression in the infraorbital region and over the right side of the mandible in a 40-year-old man with hemifacial lipodystrophy.

In one, a half side of the face and body and in four only a half side of the face was involved. Four showed involvement of the right side. Before this series was published, however, Beverly7 described a 13-year-old girl with a triangular depression of the right cheek due “largely if not entirely to the disappearance of fat.” Recently another case in a 37-year-old man was reported by Goubran.’ A right-sided infrazygomatic depression had developed during the previous 18 months. The patient associated its onset with an attack of gastroenteritis experienced during travel. On examination, no involvement of skin, muscles, sensation, or the facial skeleton was found. No evidence of renal disease or neurologic disorder could be demonstrated, During a 5-year follow-up the lesion remained unchanged. CASE REPORT

In November, 1976, a 40-year-old male Caucasian clerk was admitted to the Department of Oral Surgery and Oral Medicine of the University Hospital in Copenhagen, Denmark. With the exception of an adenotonsillectomy, appendectomy. and spontaneous expulsion of a kidney stone, the medical history was noncontributory. In 1967, at the age of 31 years. the patient first noticed asymmetry of the face with a depression in the infraorbital region and over the right side of the mandible. He had the feeling that his right eye gradually sank backward into the orbital cavity, The depressions of the face developed to their actual extent within the first 2 years and have since remained stationary, There has been no familial occurrence of similar disorders. Physical examination showed a slender but healthy-looking man. The depresslons of the right side of the face were to some extent masked by a beard. but were still quite recognizable, and the right eye was

located deeper in the orbital cavity than the left (Fig. I). The skin overlying the depression was normal, as was the sensitivity of the region. Subcutaneous fat seemed to have been lost completely. On palpation, the bones of the face appeared normal and symmetrical. The patient had a full complement of teeth except the upper right second molar, the lower right second premolar and first molar, and the lower left first molar. On a frontal view of the skull (Fig. 2) no osseous asymmetry was demonstrable, and roentgenocephalometric analysis as described by Lund* showed no deviation of the midline of the mandible. Ophthalmologic and neuromedical examinations yielded normal findings. Also normal were the results of the following laboratory examinations: Waaler-Rose, antinuclear factor, antistreptolysin, antistreptococcal hyaluronidase, serum creatinine, urine microscopy, and the presence of protein and sugar in the urine. An intravenous pyelogram also was normal. Bilateral electromyographic recordings from the anterior temporal, posterior temporal, masseter, and orbicularis oris muscles during full effort showed normal interference patterns and no sign of reduced activity on the right side (Table I).

DISCUSSION The most important differential diagnosis to hemifacial lipodystrophy would be progressive hemifacial atrophy, which is part of Romberg’s syndrome.” In this there may be an alteration of the basal skull angle. Further, a progressive unilateral atrophy of facial soft tissues, including muscles, takes place. Involved also are cartilage and bone. These changes of the face may be accompanied by epilepsy of the sensory, Jacksonian type, by trigeminal neuralgia, and by facial paresthesia. Although the present case was unilateral. the elec-

Table I. Maximal activity in elevators of the

mandible and orbicularis oris muscles*

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228

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357

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175

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rophq. We have reported a case with atrophy of the adipose tissue of the right side of the face, a negative family history. :I noncontributory medical history. and normal roentgenocephalometric and electromyographic analysis. The latter two examinations should be considered indispensable for a qualified exclusion of hemfacial atrophy It is concluded that in the reported case the disorder i\ not progressive hemifacial atrophy but belongs to the iipodystrophic disorders. Among these. i[ is suggexted that a new entity be recognized and named Iwnlifircictl lip~&stroph~~. REFERENCES

tromyographic recordings and roent~enocephalomett-ic analysis showed normal muscle activity and bone morphology, thus excluding the diagnosis of progressice hemifacial atroph). Senior and Cellis” have defined partial lipodystrophy as symmetrical on the face. AC cordingly. the present case should not be included ah a common case of partial lipodystrophy, and yet it represents unilateral disappearence of facial fat. Other author>‘. “. i have presented as lipodystroph) case5 with unilateral expression only. Thus. this concept i.s not an invention of ours. On the other hand, ue feel that MC have presented the tirst documented case in \o fal- X> progressive hemifacial atroph) in our patient has been objectively excluded by the USCof roentgenocephak> metric analysis and electromyographic recordings. Therefore, it may reasonably be assumed that this C;I\C’ represents a separate disease entity for which the term hrtm~&~icd lipod~~strophy is suggrsted. SUMMARY

The characteristics of the syndromca of partial and total lipodystrophy have been briefly reviewed. together with mention of the features of the most important differential diagnosis of progressive hemifacial at-

i&trrxluct. I. Wl\row clinqw d’un ca\ d’atrophx du t~rsu ~cllulosdipru~. Neural. /.entralbl 26: 1077. 1907. Simon\. A E~ne \eltene Trophoneurose (“L~podc\trophia prog rc\\iv;i“, / Gea Neural. Phychiatr 5: 19-38, 191 I Scnwr. B and Gellis. S. S.: The Syndromes of Total L~pody\tt-oph) .md of Partial Lipodygtrophy. Pediatric\ 33: 59%hi?. I WlJ Pole! I R ,ind Sltcklcr. G. B.: Progres!he Lqodystroph) Am I. DI\ Child 106: 356.363. I963 LaurenccI, R I) : Lipodystrophq and Hepatomegal) With Diahetc\. 1,1pxm1;1. and Other Metabolic Disturbance\. Lnncet 250: 721.731. I’Mh. 1, Lipody>troph): A Cahe Report of Partial Gwhran. (i l.ipotly\tl-oph! ot Ihe Face. Br .I Oral Surp. 14: X-756, I977 Bevcrlb B I Lipodystrophj: Herniatrophy of the Face. Am I Di\. C‘hlid SO: X-Z%, 1935. Lund. I< !vIandlhular Growth and Remodrltmg Processeb Attet Cond! lar Fracture, A Longitudinal Roentgencephalometric Curd\. Acta Odontol. Stand. Suppl. 32:hJ. pp 17-17, 1974 Gtrrlm. R. .I Pindborg. J. J.. and Cohen. M. M.: Syndromes ot the Hwd lnld Neck, ed. 2. New York. 1976. McGrawHitl Book C‘rmp”“~. Ill< pp. iJI-i&t Mnller. F The Chewing Apparatu\: An Electr(rn,yographic Stud! 01 the Awon of the Muscle\ of Mawcation and Its Correlatton IO Fnc~al Morphology. Acta Physiol. Stand. 69: Suppl. 2x0. I ‘bh