Hyalinosis Cutis Et Mucosae (Lipoid Proteinosis)
Hyalinosis Cutis Et Mucosae (Lipoid Proteinosis)
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DOI：
10.1017/s0022215100064690
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发表时间：
1965-11
期刊：
影响因子：
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通讯作者：
R. T. Raymond-Jones
中科院分区：
文献类型：
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作者：
R. T. Raymond-Jones
皮肤粘膜透明质变性有时也称为脂质蛋白沉积症，是一种罕见的家族性先天性代谢性疾病，其特征是由于脂质物质的浸润，皮肤和粘膜出现长期的声音嘶哑和苍白、蜡样、增厚的外观。1908年Siebenmann首次描述了这种情况，1929年Urbach和Wiethe报告了9例病例。世界文献中已报告了约100例病例，其中33例发生在南非，几乎所有病例都来自德国或荷兰血统的家庭。1961年，英国报告了第一个病例（科万等人），Thripp于1935年报告了美国的首例病例，Thambiah等人于1963年报告了印度的首例病例。最大的系列-27例-由斯科特和芬德利在1960年报道。
HYALINOSIS CUTIS ET MUCOSAE sometimes called_ Lipoid Proteinosis is a rare metabolic disease which is familial and congenital and is characterized by prolonged hoarseness and a pale, waxy, thickened appearance of the skin and mucous membranes, due to infiltration of a lipoid material. The condition was first described by Siebenmann in 1908 and in 1929 Urbach and Wiethe reported nine cases. About 100 cases have now been reported in world literature and of these 33 cases were seen in South Africa and nearly all of which are from families of German or Dutch descent. The first case to be reported in Britain was in 1961 (Cowan et al.), Thripp reported the first case in the United States of America in 1935 and Thambiah et al. the first case in India in 1963. The largest series—27 cases—were reported by Scott and Findlay in i960.