By Gary M. White, MD
H syndrome is an autosomal recessive genodermatosis characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height (short stature), hyperglycemia/diabetes mellitus, and hallux valgus/flexion contractures--thus the name.
- It is caused by mutations in the SLC29A3 gene.
A 29-year-old man presented with progressive sclerodermatous induration of the upper and lower extremities beginning at the age of 21 years. In addition, he had had sensorineural hearing loss since the age of 7 years and insulin-dependent diabetes mellitus since the age of 10 years, as well as recurrent febrile episodes. Acta Derm Venereol 2015; 95: 1021–1023
Journal of the American Academy of Dermatology Volume 70, Issue 1, Pages 80–88, January 2014
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