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Summer 2017, Vol. 25 No. 2

Hong Kong J. Dermatol. Venereol. (2017) 25, 79-82


Case Report

Urbach-Wiethe syndrome (Lipoid proteinosis): an entity with rare absence of characteristic hoarseness of voice

烏爾巴赫─威士綜合徵(類脂質蛋白沉積症):一宗罕見地沒有聲音嘶啞特徵的個案

V Kuntoji, C Kudligi, PV Bhagwat, ED Kaivalyam, S Patil, A Bansal

Abstract

Lipoid proteinosis, also known as Urbach-Wiethe disease, is a rare autosomal recessive disorder characterised by the deposition of an amorphous hyaline material in the skin, mucosa and viscera which results in a myriad of clinical features. Although symptoms can vary greatly among affected individuals, symptoms normally begin in infancy and are typically due to the thickening of the skin and mucous membranes. The first symptom is often a weak cry or a hoarseness of voice due to thickening of the vocal cords which is one of the most striking features of the disease. We report a case of lipoid proteinosis in an adult male who had most of its typical features except for hoarseness of voice which is rarely reported in the literature.

類脂質蛋白沉積症也稱為烏爾巴赫-威士病,是一種罕見的常染色體隱性遺傳病,其特徵在於在皮膚、粘膜和內臟中沉積著無定形的透明物質,衍生各式各樣的臨床特徵。儘管受影響的個體之間的症狀可能會有很大差異,但症狀通常在嬰兒期開始,由皮膚和粘膜增厚引起。首個症狀通常是由於聲帶增厚而引起的柔弱的啼哭或聲音嘶啞,這是此病最突出的病徵之一。我們報告一例成年男性的類脂質蛋白沉積症,除卻聲音嘶啞之外,他有著眾多其他的典型特徵,這是文獻中罕見的。

Keywords: Hoarseness, hyaline, lipoid proteinosis, scars

關鍵詞: 聲嘶、透明的、類脂質蛋白沉積症、疤痕