Previously unreported abnormalities of dermal basement membranes and collagen fibrils in a patient with X-linked spondyloepiphyseal dysplasia tarda.
Electron microscopic findings of the skin biopsy of a boy with spondyloepiphyseal dysplasia tarda showed several novel features. The basement membrane of the epidermis showed focal irregular thickening and reduplication. The collagen fibres showed foci of fibrous long spacing collagen and marked variation in fibre diameter. Taken together these abnormalities have not been reported in any other condition.
D000293:Adolescent; D001485:Basement Membrane / Q000473:pathology / Q000648:ultrastructure; D002875:Chromosomes; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011859:Radiography; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure