[X-chromosome dominant chondrodysplasia punctata (Happle syndrome). Lyonization of the eyelashes?].
X-linked dominant chondrodysplasia punctata or Happle syndrome is a rare hereditary disorder. The clinical features include retardation of growth, cataract, and temporary, ichthyosiform erythroderma. Atrophic lesions and hyperkeratotic papules of the skin and disturbances of hair growth follow the lines of Blaschko. A 5-year-old girl with X-linked dominant chondrodysplasia punctata was found to be mentally retarded and to have abnormalities of the eyelashes (growth and pigmentation), which had not previously been described in this condition.
Wollina
U
U
Klinik für Hautkrankheiten, Friedrich-Schiller-Universität, Jena.
Vogel
H
H
D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000235:genetics; D005140:Eyelashes / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis / Q000235:genetics; D011859:Radiography; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D014960:X Chromosome
X-chromosomal-dominante Chondrodysplasia punctata (Happle-Syndrom). Lyon-Effekt an den Wimpern?