Lipoid proteinosis: report of three familial cases

Dermatol Online J. 2006 Jan 27;12(1):16.


Lipoid proteinosis is a rare autosomal recessive disorder; it presents in early childhood with hoarseness, skin infiltration and thickening with beaded papules on eyelid margins, and facial acneiform or pock-like scars. Although 250 cases have been reported until now, the occurrence of disease in siblings is very rare. We report three familial cases of lipoid proteinosis involving a brother and sister and their nephew.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cicatrix / etiology
  • Eyelids / pathology*
  • Female
  • Forehead*
  • Hoarseness / etiology*
  • Humans
  • Lipoid Proteinosis of Urbach and Wiethe / complications
  • Lipoid Proteinosis of Urbach and Wiethe / genetics*
  • Lipoid Proteinosis of Urbach and Wiethe / pathology*
  • Male
  • Skin / pathology*
  • Skin Diseases / etiology
  • Tongue / pathology