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- Title
Lipoid proteinosis in two sisters.
- Authors
Sürücü HA; Yildiz S; Aksoy N; Güldür ME; Çeçe H; Bilinç H
- Abstract
Lipoid proteinosis (Urbach-Wiethe disease and hyalinosis cutis et mucosae) is a rare autosomal recessive disease. It is characterized by the deposition of hyaline materials as extracellulary and penivasculary in the skin, mucous membranes, brain, and other internal organs and by several clinical symptoms which are developed secondary to these deposited materials. Characteristically, hoarseness, small flesh-colored papules on the edges of eyelids and on lips, together with plaques in areas associated with mechanical trauma and calcifications in temporal lobes in craniography are found. In this report, we present two cases of lipoid proteinosis in an 18 and 22-years-old sisters which applied to our clinic by symptoms of hoarseness, small flesh-colored papules on the edges of eyelids and on lips. Both of the cases have been diagnosed as having Lipoid Proteinozis which is a rare autosomal recessive transitive disease in our region where relative marriages are very common and is seldom in dermatology outcome-clinics.
- Publication
Journal of Harran University Medical Faculty / Harran Üniversitesi Tıp Fakültesi Dergisi, 2010, Vol 7, Issue 1, p33
- ISSN
1304-9623
- Publication type
Journal Article