Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata.
This paper suggests that there is probably a dominant, sex-linked type of chondrodysplasia punctata. Clinical data are reported for three girls with such a disorder. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatological findings in the children include erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Later on, patterned ichthyosis, follicular atrophoderma, coarse, lusterless hair and cicatricial alopecia become evident. It is assumed that about one fourth of all cases with chondrodysplasia punctata reported in the literature belong to the dominant sex-linked type.
D000293:Adolescent; D000505:Alopecia / Q000473:pathology; D002648:Child; D002806:Chondrodysplasia Punctata / Q000235:genetics* / Q000473:pathology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D012737:Sex Factors; D012867:Skin / Q000473:pathology; D013577:Syndrome