The SLC29A3 gene has recently been found mutated in rare patients with inherited syndromic histiocytosis resulting in 4 overlapping phenotypes including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis (FHC) and sinus histiocytosis with massive lymphadenopathy (SHML) or Familial Rosai–Dorfman disease (RDD) [3]. The gene discussed is SLC29A3; the disease is hypercholesterolemia, familial, 1.