June 2000

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History:The patient is a 22 yo white male with a history of vascular malformations, chronic rectal bleeding, and scoliosis. He was admitted to Barnes-Jewish Hospital for increased rectal bleeding and weakness. On admission his hemoglobin was 4.3 and he was transfused with 10 units of packed red cells. A colonoscopy revealed diffuse rectal hemangiomas and hemorrhoids.He was also noted to haave port wine stains. According to the patients mother, he had been seen by a specialist 20 years ago, but no diagnosis was given at that time. A dermatology consult was obtained for diagnostic purposes.

Physical Examination: On physical exam the patient was found to have marked asymmetry of his ears and eyes. There were hemangiomas at the vermillion border (Fig.A) and also on the tongue. Well defined, uniformly pigmented nevi, 2-5mm in size, were scattered on the neck, chest, back and arms. He had scoliosis with an obvious deformity of his thorax. A 40 cm. Port wine stain was located at the left thorax, and an additional 15 cm port wine stain was present over the right axilla (Figs. C, D). A 3.5 cm soft subcutaneous tumor was located over the mediastinum. On examination of the extremities, the patient was noted to have acromegaly of both the hands (Fig B) and feet (Fig E) and macrodactyly of the bilateral second fingers and the bilateral first, second, and third toes.


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