Generalized pure cutaneous Rosai-Dorfman disease: a link between inflammation and cancer not associated with mitochondrial DNA and SLC29A3 gene mutation?
These clinical features overlapped with pigmented hypertrichosis with insulin-dependent diabetes (PHID), H syndrome, Faisalabad histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), all of which are also caused by SLC29A3 mutations.
Furthermore, mutations in SLC29A3 gene have also been demonstrated in patients described as having an inherited form of Rosai-Dorfman disease, named Faisalabad histiocytosis or familial Rosai-Dorfman disease.
Recent findings of biallelic mutations in SLC29A3 in 2 families reported to have familial RDD and in a kindred with Faisalabad histiocytosis (OMIM 602782), which is an autosomal inherited form of histiocytosis with similarities to RDD, may explain the RDD-like immunophenotype in our H syndrome case.
Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD.
Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD.