Hereditary sclerosing poikiloderma.
Three persons with hereditary sclerosing poikiloderma were studied to find any clue to explain the mechanism involved in producing the cutaneous lesions which are so striking clinically and also evident histologically. Investigational studies included a blood chemistry screen, chromosome analyses, and skin biopsies evaluated by routine stains as well as by electron microscopy and direct immunofluorescence. No mechanism for the production of the clinical and histological changes in the dominantly inherited disorder was found.
D000293:Adolescent; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics*