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: Emily Avitan-Hersh, Hanna Mandel, Margarita Indelman, Gad Bar-Joseph, Abraham Zlotogorski, Reuven Bergman
• Journal: The American Journal of dermatopathology (Am J Dermatopathol) Vol. 33 Issue 1 Pg. 47-51 (Feb 2011) ISSN: 1533-0311 [Electronic] United States
• PMID: 21178579 (Publication Type: Case Reports, Journal Article)

Chemical References

• Nucleoside Transport Proteins
• SLC29A3 protein, human

Topics

• Abnormalities, Multiple (genetics, immunology, pathology)
• Child, Preschool
• Diagnosis, Differential
• Female
• Histiocytosis, Sinus (genetics, immunology, pathology)
• Humans
• Hyperpigmentation (genetics, immunology, pathology)
• Hypertrichosis (genetics, immunology, pathology)
• Immunohistochemistry
• Immunophenotyping
• Leukocytes, Mononuclear (metabolism)
• Mutation
• Nucleoside Transport Proteins (genetics)
• Skin Diseases, Genetic (genetics, immunology, pathology)
• Syndrome