Dergiler / Kulak Burun Boğaz Uygulamaları / 2019 / Cilt: 7 - Sayı: 1

Lipoid proteinosis (Urbach-Wiethe disease): A rare entity and review of the literature

Lipoid proteinozis (Urbach-Wiethe hastalığı): Nadir bir durum ve literatürün incelenmesi

Sayfa
51–58
DOI
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In histochemicalexamination, positive staining with periodic acid-Schiff in basalmembrane and negative staining with Congo red were obtained.We established a diagnosis of LP according to typical vocal cordinvolvement and histopathologic, genetic and clinical findings.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Lipoid proteinosis (LP) is a rare disease.
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Temel Bulgular & Veri:It may affect theskin, oral mucosa, pharynx, larynx and all visceral organs.In this article, we describe a 32-year-old female patient whoapplied with complaint of white swelling in mouth, limitingthe movement of lip, and hoarseness.
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Sonuç & Katkı:In histochemicalexamination, positive staining with periodic acid-Schiff in basalmembrane and negative staining with Congo red were obtained.We established a diagnosis of LP according to typical vocal cordinvolvement and histopathologic, genetic and clinical findings.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Lipoid proteinosis (LP) is a rare disease. It may affect theskin, oral mucosa, pharynx, larynx and all visceral organs.In this article, we describe a 32-year-old female patient whoapplied with complaint of white swelling in mouth, limitingthe movement of lip, and hoarseness. Papule-like itchy rashesparticularly around the hands, elbows, and lips were observedin physical examination and bilateral blepharosis in eyeexamination. In videolaryngostroboscopy, thickened vocal cordsand yellow papule formations covering the entire supraglotticregion and oral mucosa drew attention. In punch biopsy samplestaken from larynx and sublingual regions, hyperkeratosis-patterned multilayered epithelial and subepithelial amorphoushyaline material deposition was observed. In histochemicalexamination, positive staining with periodic acid-Schiff in basalmembrane and negative staining with Congo red were obtained.We established a diagnosis of LP according to typical vocal cordinvolvement and histopathologic, genetic and clinical findings.

Abstract

Lipoid proteinozis (LP) nadir görülen bir hastalıktır. Cilt, oral mukoza, farenks, larenks ve tüm iç organları etkileyebilir. Bu çalışmada ağız içerisinde dudak hareketini kısıtlayan beyaz renkli şişlik ve ses kısıklığı yakınması ile başvuran 32 yaşında bir kadın hasta sunuldu. Fizik muayenede özellikle el, dirsek ve dudaklar çevresinde papül benzeri döküntü ve göz muayenesinde iki taraflı blefaroz gözlendi. Videolarengostroboskopide, vokal kordlarda kalınlaşma ve tüm supraglottik bölgeyi ve oral mukozayı tutan sarı papül oluşumları dikkat çekti. Larenks ve sublingual bölgelerden alınan punch biyopsi örneklerinde, epitel ve subepitelyal yerleşimli hiperkeratoz paternli çok katmanlı amorf hiyalin materyal birikimi gözlendi. Histokimyasal incelemede, bazal membranda periyodik asit-Schiff ile pozitif ve Kongo kırmızısı ile negatif boyanma elde edildi. Tipik vokal kord tutulumu ve histopatolojik, genetik ve klinik bulgulara göre LP tanısı kondu.

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Bu Makaleye Atıf Yap

DOĞAN, M., HİRA, İ., BALTACI, B., BAYRAM, A., MUTLU, C. (2019). Lipoid proteinosis (Urbach-Wiethe disease): A rare entity and review of the literature. Kulak Burun Boğaz Uygulamaları, Cilt: 7 - Sayı: 1, 51–58. https://ajindex.com/articles/343519

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Kaynakça (12)

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