title: A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.
abstract: H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin and systemic manifestations including hepatosplenomegaly, cardiac anomalies, hearing loss, hypogonadism, low height, hypertriglyceridemia, hallux valgus, and flexion contractures. H syndrome results from mutations in the SLC29A3 gene, which encodes the human equilibrative nucleoside transporter hENT3. The cutaneous histopathology is characterized by a striking mononuclear cell infiltrate in the dermis consisting of CD68+ monocyte-derived cells and CD34+ and factor XIIIa+ dendrocytes. We describe a case of H syndrome in which the infiltrating mononuclear cells were CD68+, CD163+, S-100+, and CD1a-, thus simulating the immunophenotype observed in Rosai-Dorfman disease (RDD). The immunostaining for CD21, fascin, and CD34 were negative, and there were also many factor XIIIa+ dendrocytes interspersed within the dense mononuclear cell infiltrate. 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.
authors.affiliation: Departments of Dermatology, Technion Institute of Technology, Haifa, Israel.
authors.forename: Emily
authors.initials: E
authors.lastname: Avitan-Hersh
authors.forename: Hanna
authors.initials: H
authors.lastname: Mandel
authors.forename: Margarita
authors.initials: M
authors.lastname: Indelman
authors.forename: Gad
authors.initials: G
authors.lastname: Bar-Joseph
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
authors.forename: Reuven
authors.initials: R
authors.lastname: Bergman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D015618:Histiocytosis, Sinus / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics / Q000276:immunology / Q000473:pathology; D006983:Hypertrichosis / Q000235:genetics / Q000276:immunology / Q000473:pathology; D007150:Immunohistochemistry; D016130:Immunophenotyping; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D013577:Syndrome
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human