X-chromosomal-rezessive Ichthyosis – ein kasuistischer Beitrag

Zusammenfassung

Ein 14-jähriger Knabe ist als Träger einer X-chromosomal-rezessiven Ichthyosis (XRI) diagnostiziert worden durch den Nachweis einer Deletion im Steroidsulfatase-Gen (STS-Gen) auf dem X-Chromosom. Bei Mutter und Schwester ließen sich verminderte Aktivitäten der Arylsulfatase C (ASC) nachweisen, was sie als Überträgerinnen (Konduktorinnen) ausweist.

Summary

The authors describe a 14 year old boy with ichthyosis. His mother and his sister are carriers. They have reduced activity of the arylsulfatase C. A deletion of the STS gene on chromosome X has been detected in this family.

Schlüsselwörter

X-chromosomal-rezessive Ichthyosis - Konduktorinnen

Keywords

X-linked ichthyosis - carriers

• Literatur

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