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.
Sabater-Abad J, Matellanes-Palacios M, Pont-Sanjuan V, Miquel-Miquel J, Navarro-Conde P, Gimeno-Carpio E. Oral Ulcer—A Disabling Manifestation in a Patient With Lipoid Proteinosis. JAMA Dermatol. Published online June 12, 2019. doi:10.1001/jamadermatol.2019.0805
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