title: H syndrome: the first 79 patients.
abstract: BACKGROUND
  H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3.
  
  
  OBJECTIVE
  We sought to investigate the clinical and molecular findings in 79 patients with this disorder.
  
  
  METHODS
  A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients with allelic disorders. For 31 patients described by others, data were gathered from the medical literature.
  
  
  RESULTS
  The most common clinical features (>45% of patients) were hyperpigmentation, phalangeal flexion contractures, hearing loss, and short stature. Insulin-dependent diabetes mellitus and lymphadenopathy mimicking Rosai-Dorfman disease were each found in approximately 20%. Additional systemic features were described in less than 15% of cases. Marked interfamilial and intrafamilial clinical variability exists. Twenty mutations have been identified in SLC29A3, with no genotype-phenotype correlation.
  
  
  CONCLUSIONS
  In the 31 patients described by others, data were collected from the medical literature.
  
  
  CONCLUSIONS
  H syndrome is a multisystemic disease with clinical variability. Consequently, all SLC29A3-related diseases should be considered a single entity. Recognition of the pleomorphic nature of H syndrome is important for diagnosis of additional patients.
authors.affiliation: Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Vered
authors.initials: V
authors.lastname: Molho-Pessach
authors.affiliation: Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Yuval
authors.initials: Y
authors.lastname: Ramot
authors.affiliation: Department of Dermatology-Allergology, University Paris IV, Tenon Hospital, Paris, France.
authors.forename: Frances
authors.initials: F
authors.lastname: Camille
authors.affiliation: Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Victoria
authors.initials: V
authors.lastname: Doviner
authors.affiliation: Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Sofia
authors.initials: S
authors.lastname: Babay
authors.affiliation: Private clinic, Guatemala City, Guatemala.
authors.forename: Siekavizza Juan
authors.initials: SJ
authors.lastname: Luis
authors.affiliation: Department of Dermatology, Faculty of Medicine, Medical University of Sofia, Sofia, Bulgaria.
authors.forename: Valentina
authors.initials: V
authors.lastname: Broshtilova
authors.affiliation: Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address: zloto@cc.huji.ac.il.
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003286:Contracture / Q000235:genetics*; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D005260:Female; D005385:Fingers; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics* / Q000473:pathology; D006983:Hypertrichosis / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008206:Lymphatic Diseases / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014034:Toes; D055815:Young Adult
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human
keywords: FHS; H syndrome; IDDM; OMIM; PHID; RDD; Rosai-Dorfman disease; SLC29A3; familial histiocytosis syndrome; genodermatosis; histiocytosis; hyperpigmentation; insulin-dependent diabetes mellitus; online Mendelian inheritance in man; pigmented hypertrichosis with insulin-dependent diabetes mellitus