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The H Syndrome
Author(s) -
ElKhateeb Ekramy A.
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.1525-1470.2009.01076.x
Subject(s) - genodermatosis , medicine , hypertrichosis , dermatology , nucleoside transporter , hyperpigmentation , genetics , gene , transporter , biology
The H syndrome is a recently defined autosomal recessive genodermatosis caused by mutations in the nucleoside transporter hENT3. It is characterized by cutaneous changes of progressive sclerosis, hyperpigmentation, and hypertrichosis that follow a specific pattern and are associated with multiple systemic manifestations. A case is presented and a brief review is introduced based on the few related reports.