Lipoid proteinosis (Urbach-Wiethe disease): A case report
Küçük Resim Yok
Tarih
2014
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish Soc Dermatology Venerology
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Lipoid 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.
Açıklama
Anahtar Kelimeler
Lipoid Proteinosis, Urbach-Wiethe Disease, Hyaline
Kaynak
Turkderm-Turkish Archives Of Dermatology And Venerology
WoS Q Değeri
Scopus Q Değeri
Cilt
48
