[X-linked dominant chondrodysplasia punctata: an osteocutaneous syndrome].

Abstract

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.

• Authors: R Happle, H Kästner
• Journal: Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete (Hautarzt) Vol. 30 Issue 11 Pg. 590-4 (Nov 1979) ISSN: 0017-8470 [Print] Germany
• Vernacular Title: X-gekoppelt dominante Chondrodysplasia punctata: Ein osteokutanes Syndrom.
• PMID: 521286 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Child
• Chondrodysplasia Punctata (genetics, pathology)
• Female
• Genes, Dominant
• Hair (pathology)
• Humans
• Sex Chromosome Aberrations (pathology)
• Skin (pathology)
• X Chromosome