Haneke E, Hornstein O P, Meisel-Stosiek M, Steiner W
Hum Genet. 1984;68(4):342-5. doi: 10.1007/BF00292598.
Hyalinosis cutis et mucosae is a rare autosomal recessive disorder of unknown aetiology. Clinical features are hoarseness from early infancy and yellowish papules and plaques in mucous membranes and skin. Light and electron microscopy demonstrates accumulation of PAS-positive material around blood vessels and in the dermis. This substance probably derives from glycoproteins of basement membranes. Carbon dioxide laser surgery of thickened vocal cords proved to be effective for the treatment of hoarseness.
皮肤黏膜透明变性是一种病因不明的罕见常染色体隐性疾病。临床特征为自婴儿早期即出现声音嘶哑，以及黏膜和皮肤出现淡黄色丘疹及斑块。光镜和电镜检查显示血管周围及真皮内有PAS阳性物质积聚。该物质可能来源于基底膜的糖蛋白。二氧化碳激光手术治疗增厚的声带对声音嘶哑有效。
