CONGENITAL HEMIHYPERTROPHY WITH PIGMENTO-VASCULAR SKIN-LESIONS ASSOCIATED WITH CEREBRAL, VISCERAL AND BONE ABNORMALITIES

  • 1 January 1987
    • journal article
    • research article
    • Vol. 114  (5) , 665-669
Abstract
A case of hemihypertrophy associated with multiple anomalies of the skin, bone and visceral organs is presented. A 31-year-old female was admitted for evaluation of her skin conditions. Her family history is noncontributory, while her past history discloses operations for syndactyly of the right foot, tonsillar hypertrophy, anal prolapse and ovarial cyst. Erythemas of the face and the left upper extremity were noticed during the neonatal period and hypertrophy of the right side of the body started at age 2 months. On admission, hemihypertrophy was observed in the face, trunk and extremities. Multiple faint nevi flammei were seen on the right half of the face and on the left side of the trunk and extremities. Telangiectasis and nevus anemicus were seen in the upper chest. The left upper extremity showed diffuse brown patches that was histologically basal pigmentation with some giant melanosomes. Visceral anomalies consisted of fibromatous tumors of the tip of the tongue and mitral prolapse. Angiography and computed tomography revealed a possible arteriovenous malformation of the right occipital region, small hemangiomas around the patella, dilation of the lateral ventricle, and calcification of the choroid plexus. Tortuous superficial veins were noted in the right leg. She had no seizure, but her IQ was 68. The bone disorders consisted of scoliosis, short forth metacarpus, hypoplastic mandible and peroneal exostosis. Examination revealed a slight diminution of urinary corticosteroid, but no other endocrinological disorders were found. The hemihypertrophy in this case is at least partially due to an arteriovenous shunt, suggested by elevated oxygen saturation of the blood obtained from the internal saphenous vein. Hemihypertrophy may at times be associated with Wilms'' tumor, medullary sponge kidney, adrenal tumor or hepatoblastoma, but these tumors can be excluded in this case. We also exclude Russel-Silver''s syndrome, Beck with-Wiedemann''s syndrome, Langer-Giedion''s syndrome and the newly described "proteus syndrome". Since our case has no neurofibroma, von Recklinghausen''s disease can be excluded. Neurological and opthalmological examination exclude Sturge-Weber''s syndrome. Although this case seems to be most closely related to KlippelTrenaunay-Weber''s syndrome, it should be a particular case, much more complicated with multiple anomalies of various tissues. rays, dosing of helotherapy, epidemiological data concerning photodematosis (circumstances of exposure, UV threshold dose) and photocarcinogenesis (determination of annual MED doses in relation to areas of uncovered skin and occupational exposure to sun rays). Other studies on the French territory will provide a map of UV irradiation.

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