The H syndrome.
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.
El-Khateeb
Ekramy A
EA
Department of Dermatology, Venereology and Andrology, Ain Shams University, Cairo, Egypt. krmhmd@yahoo.com
D001847:Bone Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics* / Q000473:pathology; D006983:Hypertrichosis / Q000235:genetics* / Q000473:pathology; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D011859:Radiography; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human