Lifelong Scaling and Blistering in a Family

Lifelong Scaling and Blistering in a Family

:  Ichthyosis bullosa of Siemens is a genodermatosis, which presents in childhood with mild blistering and hyperkeratosis. The heterogenous clinical presentation may lead to misdiagnosis, even in the presence of a strong family history. Genetic testing and counselling may help in diagnosis and treat...

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Veröffentlicht in:Pediatric dermatology 2010-11, Vol.27 (6), p.653-654
Hauptverfasser: LANGAN, E. A., JAMIESON, L. A., JUDGE, M.
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
Biopsy
Blister - pathology
Child
Dermatology
Family Health
Humans
Ichthyosis Bullosa of Siemens - pathology
Infant
Keratosis - pathology
Male
Medical sciences
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Beschreibung
Zusammenfassung::  Ichthyosis bullosa of Siemens is a genodermatosis, which presents in childhood with mild blistering and hyperkeratosis. The heterogenous clinical presentation may lead to misdiagnosis, even in the presence of a strong family history. Genetic testing and counselling may help in diagnosis and treatment.
ISSN:0736-8046
1525-1470
DOI:10.1111/j.1525-1470.2010.01229.x