title: Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.
abstract: We describe a case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon. A 48-year-old man with parents of a consanguineous marriage, first appeared with decreased urine output, skin sclerosis on his inner thighs and short stature (142 cm, 47 kg). The patient had suffered from hearing loss since the age of 1 year, and his secondary sexual characteristics had not developed. Computed tomography showed periaortic fibrosis, bilateral ureteral stenosis, hydronephrosis and sclerosis of the germinal cords. A biopsy from the retroperitoneal mass revealed remarkable fibrosis with chronic inflammatory cells. Biopsies from the skin lesion showed thick collagen bundles through the dermis and lymphohistiocytic infiltration with numerous plasma cells. Serum inflammatory markers, such as C-reactive protein, vascular endothelial factor, transforming growth factor-β and soluble interleukin-2 receptor, were elevated. Prednisolone was effective in treating skin lesions and in lowering serum inflammatory markers. After a long period of follow up, genomic DNA of the patient was obtained, and we identified a homozygous mutation in exon 5, c.625G>A, which caused transition of glycine to arginine, p.Gly208Arg, in the patient, but not in DNA samples from another 50 healthy individuals. This is the first case of H syndrome with Raynaud's phenomenon and retroperitoneal fibrosis, and the first Japanese case of H syndrome reported in the English published work with a novel mutation in the SLC29A3 gene.
authors.affiliation: Department of Dermatology, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Etsuko
authors.initials: E
authors.lastname: Fujita
authors.affiliation: Department of Dermatology, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Mayumi
authors.initials: M
authors.lastname: Komine
authors.affiliation: Department of Dermatology, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Tsuda
authors.affiliation: Department of Dermatology, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Akimasa
authors.initials: A
authors.lastname: Adachi
authors.affiliation: Department of Dermatology, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Murata
authors.affiliation: Department of Allergy & Rheumatology, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Kamata
authors.affiliation: Department of Allergy & Rheumatology, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Minota
authors.affiliation: Department of Dermatology, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Mamitaro
authors.initials: M
authors.lastname: Ohtsuki
mesh_terms: D003286:Contracture / Q000235:genetics* / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D015614:Histiocytosis / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D011928:Raynaud Disease / Q000235:genetics*; D012185:Retroperitoneal Fibrosis / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human
keywords: H syndrome; Raynaud's phenomenon; SLC29A3; multifocal fibrosis; retroperitoneal fibrosis