Families

What is hereditary mucoepithelial dysplasia?
Hereditary mucoepithelial dysplasia is an autosomal dominant genetic disease affecting skin, hair, mucosae and eyes and caused by a genetic change in the SREBF1gene.

A genetic change in the SREBF1gene, also called a mutation or pathogenic variant, is associated with abnormal lipid metabolism involving fatty acids and cholesterol. This can affect the normal development of the skin, hair, and mucous membranes. Common features include alopecia, (loss of scalp hair); red lesions in the mouth; and skin changes such as psoriasis-like plaques and follicular keratosis. Eye problems are also common and may include inflammation or ulcers of the cornea and cataracts. However, not everyone with hereditary mucoepithelial dysplasia has all of these features.

How many people are affected by hereditary mucoepithelial dysplasia?
Hereditary mucoepithelial dysplasia is a rare disease. So far, only 65 patients have been reported in the medical literature. However, not all patients have been genetically tested to confirm a causative SREBF1mutation.