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Urbach-Wiethe disease

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A very rare, congenital lipoid storage disease with multiple lipoid infiltrations producing waxiness and thickening of the skin and mucous membranes of the mouth, pharynx, larynx, and hypopharynx, causing hoarseness and inability to cry, often from birth. Apparently no visceral symptoms or signs. Associated disorders usually consist of grand mal epilepsy, attacks of rage, and mental retardation.

This syndrome is most often seen among people of Dutch or German descent and is rather frequently seen in South Africa. Both sexes affected; onset in infancy. Transmitted as an autosomal recessive trait.


  • A. Wiethe:
    Kongenitale diffuse Hyalinablagerungen in den oberen Luftwegen. Familiärer auftretend.
    Zeitschrift für Hals-, Nasen- und Ohrenheilkunde, 1924, 10: 369-362.
  • E. Urbach:
    Über eine familiäre lokale Lipoidose der Haut und der Schleimhaute auf Grandlage einer diabetischen Stoffwechselstörung.
    Archiv für Dermatologie und Syphilis, Berlin, 1929, 159: 451-466.
  • E. Urbach, C. Wiethe:
    Lipoidosis cutis et mucosae.
    Virchows Archiv für pathologische Anatomie und Physiologie und für klinische Medizin, 1929, 273: 285-319.
  • E. Urbach:
    Kutane Lipoidosen.
    Dermatologische Zeitschrift, Basel, 1933, 66: 371.
  • R. Rössle:
    Beiträge zur Frage der Speicherungskrankheiten.
    Verhandlungen der Deutschen Gesellschaft für Pathologie, Stuttgart, 1939; 31: 133-149.

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