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June 12, 2019

Oral Ulcer—A Disabling Manifestation in a Patient With Lipoid Proteinosis

Author Affiliations
  • 1Department of Dermatology, Hospital Arnau de Vilanova, Valencia, Spain
  • 2Department of Pathology, Hospital Arnau de Vilanova, Valencia, Spain
JAMA Dermatol. 2019;155(8):977-979. doi:10.1001/jamadermatol.2019.0805

Lipoid proteinosis, or Urbach-Wiethe disease,1 is a rare autosomal recessive disorder caused by mutations in the ECM1 gene2 leading to the deposit of a hyaline and amorphous substance in the skin, mucous membranes, and other tissues.3 Hoarseness, cutaneous vesicular or erosive and verrucous lesions, and neuropsychiatric symptoms such as seizures or behavioral disorders are part of the broad spectrum of its clinical manifestations.1,4 We report a case of lipoid proteinosis with a disabling lingual ulcer that evolved favorably after receiving treatment with oral corticosteroids.