Hyalinosis cutis et mucosae--a case report

Hyalinosis cutis et mucosae is a rare genetic disease characterized by accumulation of glycoproteinaceous material at mucocutaneous sites, salivary glands, central and peripheral nervous systems, eyes, other organs and tissues. The course of the disease is protracted and not likely to regress either spontaneously or with therapy. The disease may produce considerable disfigurement and functional impairment. The morbid factors include disfiguring papulonodular lesions particularly of expose skin, hoarseness of voice due to vocal cord. Infiltration, nodular deformation of the eyelids and board like rigidity of tongue. A case of Hyalinosis cutis et mucosae in a 18 year old girl is reported here. The clinical features, histopathology and management are discussed in detail.