Hyalinosis cutis et mucosae.
Hyalinosis cutis et mucosae is an uncommon genetic disease characterized by accumulation of glycoproteinaceous material not only at mucocutaneous sites but also in salivary glands, central and peripheral nervous systems, eyes, nd other organs and tissues. The course of the disease is protracted, and it is not likely to regress, either spontaneously or with therapy. Although it does not usually result in decreased longevity, the disorder may produce considerable disfigurement and functional impairment. This article documents the case of a 5-year-old girl who presented with vocal weakness, misarticulations, and hoarseness; hypopigmented scarring of the arms and pubis; fibrotic thickenings of the oral and laryngeal mucosa; and serous otitis media. A tongue biopsy revealed diffuse hyaline deposits throughout the connective tissue and in a lamellar pattern about blood vessels. A diagnosis of hyalinosis cutis et mucosae was made.
D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006685:Hoarseness / Q000209:etiology; D006801:Humans; D008064:Lipidoses / Q000473:pathology*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications / Q000473:pathology*; D009059:Mouth Diseases / Q000473:pathology; D010034:Otitis Media with Effusion / Q000209:etiology; D013064:Speech Disorders / Q000209:etiology; D014060:Tongue Diseases / Q000473:pathology; D014832:Voice Disorders / Q000209:etiology