Professionals

Prevalence
Hereditary mucoepithelial dysplasia is a rare entity of unknown prevalence; at least 65 familial and sporadic cases have been published to date.

Clinical characteristics
Individuals with SREBF1-related disease have a multisystem disorder mainly characterized by non-scarring alopecia, chronic mucosal lesions associated with keratitis, keratosis pilaris and perineal intertrigo.

Molecular characteristics
Virtually all individuals described to date in the literature harbor a recurrent heterozygous c.1579C>T, p.Arg527Cys (transcript NM_004176.5) pathogenic variant in the SREBF1gene (annotated as c.1669C>T, p.Arg557Cys in the initial reports). Other rarely identified disease-causing variants include p.Arg527His, p.Asn528del, and p.Leu530Pro.

Genetic Counselling
Hereditary mucoepithelial dysplasia is inherited in an autosomal dominant fashion. Affected individuals has a 50% risk of transmitting the disorder to their sibship. Both familial (inherited from an affected parent) and apparent de novo cases have been reported.

Management
Treatment is mainly symptomatic and multidisciplinary (see Managementsection).