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Familial Brachydactylia and Hemangiectasia (Type Undetermined). Presented by R. C. V. Robinson, MD.
Two years ago, a 17-year-old boy was noted to have a peculiar redness surrounding the eyes. This appeared suddenly, but has persisted, with color variations from pink to almost purple. It is apparently worse when he is warm or perspires. There is no history of a similar condition in other members of the family. There is no familial history of other systemic diseases.This patient, his 22-year-old sister, his mother, and his maternal grandmother have `short fingers.' It has not appreciably affected his physical activities.
Involving both periorbital areas and the adjacent tissues, there is mottling similar to, if not identical with, that seen in nevus flammeus. There is no obvious thickening of the tissues. Funduscopic examination reveals no abnormalities.There is a peculiar stubbiness of the fingers.
X-ray examination of the skull
Yaffe S, Burnett J. BALTIMORE DERMATOLOGICAL SOCIETY. Arch Dermatol. 1968;97(2):204-229. doi:10.1001/archderm.1968.01610080108020