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Lifelong Scaling and Blistering in a Family
Author(s) -
LANGAN E. A.,
JAMIESON L. A.,
JUDGE M.
Publication year - 2010
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2010.01229.x
Subject(s) - genodermatosis , medicine , dermatology , family history , presentation (obstetrics) , hyperkeratosis , epidermolysis bullosa , dyskeratosis , ichthyosis , pediatrics , genetics , surgery , gene , biology
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.