engleski

Hyalinosis cutis et mucosae: a case report

Hyalinosis cutis et mucosae is uncommon, recessively inherited disease, characterized by diffuse deposition of a hyaline-like substance in the dermis, submucosal conective tissue and various internal organs. Clinical features are hoarseness from early infancy and yellowish-white papules in mucous membranes and skin. Disease maps to 1q21 and is probably caused by mutations in the extracellular matrix protein 1 gene. Quality of life is seriously impaired by the disfiguring lesions, functional impairment and the permanent hoarseness. The therapy is mainly symptomatic. Here, we report a 30 years follow up in a female patient with hyalinosis cutis et mucosae. The report deals with the different treatment modalities applied in the same patient, and the course of the disease.

hyalinosis cutis et mucosae

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