Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy. The main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, ...

[Background and Objective] Hair cycle is a highly regulated cyclical process. In this cycle, three phases were defined; anagen (growing phase), catagen (regressing phase) telogen (resting phase). Hypertrichosis well-known side effect in patients receiving an immunosuppressant, cyclosporin A (CsA). CsA also elongates organ culture system of human hair follicles. Therefore, thought to cause hyper...

introduction h syndrome (omim 612391) is an autosomal recessive disease with some features such as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia. case presentation a 17-year-old boy with hyperpigmented, hypertrichotic and indurated seborrheic keratosis-like cu...