[X-linked dominant chondrodysplasia punctata: an osteocutaneous syndrome].
A further case of X-linked dominant chondridysplasia punctata is described. This syndrome is characterized by the following cutaneous anomalies: congenital ichthyosiform erythroderma with thick, adherent hyperkeratoses; widespread atrophic skin lesions discernible after the first weeks of life; patchy alopecia; coarse and lusterless hair; onychoschisis. The hyperkeratoses of the newborn as well as the ensuing atrophoderma predominantly involve the hair follicles and are distributed in a bizarre linear or blotchy pattern. In some instances, a linear pattern of pigmentary disturbance has also been observed. These cutaneous signs and symptoms are so typical that the diagnosis of X-linked dominant chondrodysplasia punctata can be established even without X-ray examination. The syndrome has so far been observed exclusively in females. Apparently, the underlying X-linked gene defect is lethal in hemizygous males.
D002648:Child; D002806:Chondrodysplasia Punctata / Q000235:genetics / Q000473:pathology*; D005260:Female; D005799:Genes, Dominant; D006197:Hair / Q000473:pathology; D006801:Humans; D012729:Sex Chromosome Aberrations / Q000473:pathology; D012867:Skin / Q000473:pathology; D014960:X Chromosome
X-gekoppelt dominante Chondrodysplasia punctata: Ein osteokutanes Syndrom.