[Cutaneous signs and symptoms of X-linked chondrodysplasia punctata in man and mouse].
X-linked dominant chondrodysplasia punctata is a human gene defect characterized by stippled epiphyses, cataracts and cutaneous lesions distributed in a linear and blotchy pattern. The skin lesions include congenital ichthyosiform erythroderma, systematized atrophoderma mainly involving the hair follicles, and circumscribed alopecia. Similar cutaneous anomalies are described in the murine X-linked mutant bare-patches. Moreover, we found similar skeletal and ocular anomalies in this mouse, supporting the assumption that the underlying gene defects are homologous in man and mouse.
D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000175:diagnosis; D000818:Animals; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051379:Mice; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D012871:Skin Diseases / Q000151:congenital / Q000175:diagnosis*; D014960:X Chromosome
Les signes cutanés de la chondrodysplasie ponctuée dominante liée à l'X chez l'homme et chez la souris.