The H syndrome
El-Khateeb, Ekramy;
Abstract
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.
Other data
Title | The H syndrome | Authors | El-Khateeb, Ekramy | Keywords | MANIFESTATIONS;SKIN;POEMS | Issue Date | 2010 | Publisher | WILEY-BLACKWELL PUBLISHING, INC | Journal | Pediatric dermatology | Volume | 27 | Issue | 1 | Start page | 65 | End page | 68 | ISSN | 0736-8046 | DOI | 10.1111/j.1525-1470.2009.01076.x | PubMed ID | 20199414 | Scopus ID | 2-s2.0-77649115322 | Web of science ID | WOS:000274905700013 |
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