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Kinder- und Jugendmedizin 2003; 3(03): 117-119
DOI: 10.1055/s-0037-1617780
Dermatologie
Schattauer GmbH

X-chromosomal-rezessive Ichthyosis – ein kasuistischer Beitrag

X-linked ichthyosis: a casuistic contribution
Gerd F. Linß
1   Klinikum Frankfurt (Oder), Klinik für Dermatologie (Chefarzt: Dr. med. habil. G. Linß)
,
Antje Nimtz-Talaska
2   Klinik für Kinder- und Jugendmedizin (Chefarzt: Dr. med. H. Rönitz)
› Author Affiliations
Further Information

Publication History

Publication Date:
12 January 2018 (online)

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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
 

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