Lipoid proteinosis (Urbach-Wiethe disease): A case report

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dc.contributor.authorDaye, Munise
dc.contributor.authorDogan, Seda
dc.contributor.authorMevlitoglu, Inci
dc.contributor.authorEsener, Sarenur
dc.contributor.authorToy, Hatice
dc.date.accessioned2024-02-23T14:38:22Z
dc.date.available2024-02-23T14:38:22Z
dc.date.issued2014
dc.departmentNEÜen_US
dc.description.abstractLipoid proteinosis, which is known as Urbach-Wiethe disease, was first described in 1929 as lipoidosis cutis et mucosae by Urbach and Wiethe. It is a rare autosomal recessive inherited genodermatosis. There are PAS-positive hyaline material deposits in the skin, mucosa and visceral organs. A 23-year-old man, who was suffering from swelling of the lower lip and a fissure on the inner side of the lip, presented to our outpatient clinic. On dermatological examination, there were lower lip edema and infiltration, as well as macroglossia. There were bilateral yellowish papules along his eyelashes. For his ocular findings; it was learned that he had been treated for trichiasis at his childhood. There were multiple atrophic scars on his face, elbows, axilla, knees, and the skin overlying his spinous processes. He had no hoarseness. There was no consanguinity between his mother and father. Physical examination was normal. Three punch biopsies were carried out from his tongue, lips and elbow with the preliminary diagnoses of lipoid proteinosis, Melkersson-Rosenthal syndrome, focal epithelial hyperplasia, amyloidosis, granulomatous cheihtis, atrofoderma, and anetoderma. Deposition of hyaline PAS-positive materials was observed on his histopathological examination. According to the clinical and histopathological findings, the patient was diagnosed as having lipoid proteinosis. Otorhinolaryngologists, ophthalmologists, dermatologists, and neurologists should keep this rare condition in mind in the differential diagnosis.en_US
dc.identifier.doi10.4274/turkderm.48.s30
dc.identifier.endpage116en_US
dc.identifier.issn1019-214X
dc.identifier.issn1308-6294
dc.identifier.startpage114en_US
dc.identifier.urihttps://doi.org/10.4274/turkderm.48.s30
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16487
dc.identifier.volume48en_US
dc.identifier.wosWOS:000351336800013en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isotren_US
dc.publisherTurkish Soc Dermatology Venerologyen_US
dc.relation.ispartofTurkderm-Turkish Archives Of Dermatology And Venerologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectLipoid Proteinosisen_US
dc.subjectUrbach-Wiethe Diseaseen_US
dc.subjectHyalineen_US
dc.titleLipoid proteinosis (Urbach-Wiethe disease): A case reporten_US
dc.typeArticleen_US

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