Haydarpasa Numune Med J. Ahead of Print: HNHJ-76735

Lipoid Proteinosis: A Case Report

Deniz Ilgýn Çelik, sevim baysak, Sirin Yasar
Haydarpaþa Numune Training And Research Hospital, Departmen Of Dermatology, Ýstanbul

Lipoid proteinosis(LP)also known asUrbach-Wiethediseaseorhyalinosis cutis et mucosae, is a rare autosomal recessive,storage disease characterized by deposition of amorphous hyaline materialin the skin, mucous membranes, brain, and internal organs.The symptoms of lipoid proteinosis are various but typically begin with hoarseness in the newborn period. Skin-related symptoms usually appear during childhood and includeacneiform scars, wart-like papules and plaques. The clinical findings of this disease are variable among individuals, making diagnosis challenging, often requiring a detailed dermatological examination.

Keywords: Acneiform scars, hoarseness of voice, hyaline material, yellowishpapules, temporal calcifications

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Lipoid Proteinoz: Bir Vaka Sunumu

Deniz Ilgýn Çelik, sevim baysak, Sirin Yasar
Haydarpaþa Numune Eðitim ve Araþtýrma Hastanesi, Dermatoloji Ana Bilim Dalý, Ýstanbul

Urbach-Wiethe hastalýðý veya ''hyalinosis cutis et mucosae'' olarak da bilinen lipoid
proteinozis, deri, mukoz membranlar, beyin ve iç organlarda hiyalen madde birikimi ile
karakterize, nadir görülen, otozomal resesif geçiþli, kronik seyirli bir depo hastalýðýdýr. Lipoid
proteinozisin klinik bulgularý deðiþken olmakla birlikte, genellikle yenidoðan döneminde ses
kýsýklýðý ile baþlar. Göz kapaklarý kenarýnda yerleþen papüller, akneiform skarlar ve siðil
benzeri papül ve plaklar gibi çeþitli deri belirtileri ise çocukluk döneminde ortaya çýkar.

Anahtar Kelimeler: Akneiform skar, ses kýsýklýðý, hyalin materyal, sarýmsý papüller, temporal kalsifikasyon

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