A Child With H Syndrome

Abstract

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 cutaneous patches mainly involving the extremities referred to Namazi hospital, an academic center affiliated to Shiraz university of medical sciences. The patient belonged to a consanguineous family with Arab origin. Conclusions: We described a case with many clinical manifestations of H syndrome in addition to new characteristics such as microphallus. H syndrome should be considered in individuals with a constellation of symptoms as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia.