Online OnlyPubMed-ID: 20213015Seiten: 265, Sprache: EnglischSantana, N. / Devi, B. K. Yashoda / Ramadoss, Thanuja / Sumati, T. / Prasad, Sham / Swamy, ShivaLipid proteinosis, also known as Urbach-Wiethe disease, is a rare autosomal recessive disorder. It presents in early childhood with hoarseness of voice, skin infiltration and thickening, beaded papules on the eyelid margin, and facial acneform scars. Oral findings such as woody tongue and papules on the oral mucosa are common findings. To the authors' knowledge, only about 250 cases have been reported to date. The occurrence of this disease in this part of the world is rare.
Schlagwörter: hoarseness, hyaline material, lipid proteinosis, macroglossia, moniliform blepharosis, PAS positive
