Chondrodysplasia punctata. Conradi-Hünermann syndrome.
A 10-day-old girl was examined because of a peculiar, patterned hyperkeratosis that was noted at birth. The lesions were distributed over the trunk and limbs and consisted of whorls and streaks of thick, yellow, adherent scales. The salient histologic feature was marked hyperkeratosis with deep invagination of the dilated pilosebaceous ostia nearly to the level of the hair bulb. Additional physical abnormalities included patchy alopecia, bilateral zonular cataracts, a depressed nasal bridge, small stature, and multiple skeletal deformities. Roentgenograms demonstrated widespread stippled epiphyses characteristic of Conradi-Hünermann syndrome.
D001842:Bone and Bones / Q000473:pathology; D002386:Cataract / Q000150:complications / Q000151:congenital; D002806:Chondrodysplasia Punctata / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000473:pathology; D007231:Infant, Newborn; D011859:Radiography; D013577:Syndrome