Table of Content


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


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


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.


Keywords: Hoarseness, hyaline, lipoid proteinosis, scars

關鍵詞: 聲嘶、透明的、類脂質蛋白沉積症、疤痕