H syndrome: novel and recurrent mutations in SLC29A3

The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.1, 2 Histologically, there is an inflammatory infiltrate consisting mainly of histiocytes, later...