title: The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.
abstract: BACKGROUND
  The association of cutaneous hyperpigmented, hypertrichotic, and indurated patches associated with hearing loss, short stature, cardiac anomalies, hepatosplenomegaly, scrotal masses, and hypogonadism has not, to our knowledge, been previously recognized as a disease entity.
  
  
  OBJECTIVE
  We describe 10 patients with the above-mentioned findings.
  
  
  METHODS
  Patients were clinically examined and extensive laboratory evaluation was performed.
  
  
  RESULTS
  We describe 10 patients from 6 Arab consanguineous families with hyperpigmented, hypertrichotic, and indurated cutaneous patches involving the middle and lower parts of their bodies. In addition, patients displayed short stature, sensorineural hearing loss, cardiac anomalies, hepatosplenomegaly, and scrotal masses. Laboratory evaluation revealed growth hormone deficiency and hypergonadotropic hypogonadism with azoospermia. Cutaneous histopathologic examination showed hyperpigmentation of the basal layer with seborrheic-keratosis-like acanthosis, histiocytic infiltration, and a perivascular mononuclear infiltrate with plasma cells and mast cells throughout the dermis and subcutaneous fat. Comparison with several patients, recently reported in the medical literature, with similar cutaneous findings is made.
  
  
  CONCLUSIONS
  Laboratory evaluation in some patients was incomplete because of lack of cooperation.
  
  
  CONCLUSIONS
  We suggest that our patients represent a novel multisystemic autosomal recessive inherited disorder. We call this constellation of symptoms the "H syndrome."
authors.affiliation: Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Vered
authors.initials: V
authors.lastname: Molho-Pessach
authors.forename: Ziad
authors.initials: Z
authors.lastname: Agha
authors.forename: Suhail
authors.initials: S
authors.lastname: Aamar
authors.forename: Benjamin
authors.initials: B
authors.lastname: Glaser
authors.forename: Victoria
authors.initials: V
authors.lastname: Doviner
authors.forename: Nurith
authors.initials: N
authors.lastname: Hiller
authors.forename: David Haim
authors.initials: DH
authors.lastname: Zangen
authors.forename: Annick
authors.initials: A
authors.lastname: Raas-Rothschild
authors.forename: Ziva
authors.initials: Z
authors.lastname: Ben-Neriah
authors.forename: Shaher
authors.initials: S
authors.lastname: Shweiki
authors.forename: Orly
authors.initials: O
authors.lastname: Elpeleg
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D003241:Consanguinity; D005260:Female; D005355:Fibrosis; D005832:Genital Diseases, Male / Q000175:diagnosis; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006529:Hepatomegaly / Q000175:diagnosis; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis*; D006983:Hypertrichosis / Q000175:diagnosis*; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D010641:Phenotype; D012867:Skin / Q000473:pathology; D012873:Skin Diseases, Genetic / Q000175:diagnosis*; D013163:Splenomegaly / Q000175:diagnosis; D013577:Syndrome