抄録
Hyalinosis cuits et mucosae is a rare autosomal recessive disorder characterized by a hoarse voice and skin and mucosal changes. Beaded papules along the eyelid margins and infiltration of the oral mucosa are characteristic findings. In 1994, the disorder was mapped to a locus on chromosome 1q21, and pathogenic mutations were identified in the extracellular matrix protein (ECM)1 gene, which encodes the glycoprotein ECM1. We report a case of hyalinosis cuits et mucosae. The case was a 17-year-old woman. Her chief complaint was a hoarse voice since birth. She exhibited papular thickening of the upper and lower eyelids and nodules with generalized skin thickening. The skin of her hands, elbows, and knees showed signs of hyperkeratosis. And the mucosae of her pharynx, tongue, soft palate, tonsils and lips were infiltrated. She had an abnormal ECM1 mutation assumed to be a feature of this disease. In addition, she had an abnormality in exon 8 of ECM1: To our knowledge, this is the first report in Japan of an abnormality in exon 8 of ECM1. No substantial changes, in the patient's condition have been observed, and the patient continues to be followed-up.
