El-Khateeb Ekramy A
Department of Dermatology, Venereology and Andrology, Ain Shams University, Cairo, Egypt.
Pediatr Dermatol. 2010 Jan-Feb;27(1):65-8. doi: 10.1111/j.1525-1470.2009.01076.x.
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.
H综合征是一种最近定义的常染色体隐性遗传性皮肤病，由核苷转运蛋白hENT3突变引起。其特征为皮肤出现进行性硬化、色素沉着和多毛症等变化，这些变化遵循特定模式，并伴有多种全身表现。本文报告了1例病例，并根据少数相关报告进行简要综述。
