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X-chromosomal rezessive Ichthyosis

Definition

Frequent 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.

Synonyme

X-chromosomal rezessive Ichthyosis

UMLS

ICHTHYOSE, X-CHROMOSOMAL-GEBUNDENE

Bilder

12 Bilder für diese Diagnose
Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis Diagnose: X-chromosomal rezessive Ichthyosis