title: [4 cases of Richner-Hanhart syndrome (tyrosinemia type II) with neurological symptomatology in a Yugoslav family].
abstract: Findings are described in four cases of Richner-Hanhart syndrome in a Yugoslavian family; this disorder is transmitted as an autosomal recessive trait. This family was first reported in 1963. Now tyrosinemia and tyrosinuria can be found in all cases, and neurological symptoms are also present in all cases, whereas earlier only one of them had these symptoms. In the meantime, the lesions on the soles of the feet have been totally excised in three cases, partially in one, and split thickness grafts from the normal skin have been applied. The palmar lesions were treated in the same manner in two cases. The possibilities for surgical treatment of this very painful, inherited form of dermatosis and their consequences are discussed. Surgical treatment is recommended for palmar lesions, but not for the plantar form. The pathogenesis of the dermatologic manifestations in this rare metabolic disease is briefly discussed.
authors.affiliation: Klinik für Erkrankungen der Mundhöhle, Stomatologischen Fakultät des Medizinischen Zentrums der Universität Sarajevo.
authors.forename: T
authors.initials: T
authors.lastname: Salamon
authors.forename: M
authors.initials: M
authors.lastname: Hrnjica
authors.forename: U W
authors.initials: UW
authors.lastname: Schnyder
authors.forename: O
authors.initials: O
authors.lastname: Lazović
authors.forename: M
authors.initials: M
authors.lastname: Softić
authors.forename: B
authors.initials: B
authors.lastname: Topić
authors.forename: V
authors.initials: V
authors.lastname: Stolić
authors.forename: N
authors.initials: N
authors.lastname: Popović
authors.forename: A
authors.initials: A
authors.lastname: Cerkez
authors.forename: V
authors.initials: V
authors.lastname: Basić
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000601:surgery; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D016038:Skin Transplantation; D013577:Syndrome; D014443:Tyrosine / Q000097:blood*; D015022:Yugoslavia
chemical_list: D014443:Tyrosine
vernacular_title: Vier Fälle von Richner-Hanhart-Syndrom (Tyrosinämie Typ II) mit neurologischer Symptomatologie in einer jugoslawischen Familie.