DefinitionFrequent inherited dyskeratosis transmitted as an x-linked recessive trait, due to steroid sulfatase deficiency. The phenotype displays brown, firmly adherent scales especially on the extensor surfaces with a relative sparing of flexures, palms, soles and face. Asymptomatic corneal opacities can occurs in up to 50% of male patients and in some female carriers. Testicular maldescent is present in about 20% of patients. |
SynonymeX-chromosomal rezessive Ichthyosis |
UMLSICHTHYOSE, X-CHROMOSOMAL-GEBUNDENE |
Bilder | | 4 Bilder für diese Diagnose |
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