This website provides information on patients with mutations in the SREBF1gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SREBF1gene is termed hereditary mucoepithelial dysplasia, a multiepithelial disorder involving mucosae, skin, hair, and eyes and characterized by non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, and involvement of the conjunctival mucosa.
Not all individuals with hereditary mucoepithelial dysplasia have these features and variable clinical expressivity is frequently observed. The Ichthyosis Follicularis, Atrichia, Photophobia (IFAP2) syndrome, previously thought to be a distinct disorder, is also caused by pathogenic variants in SREBF1gene and is thought to be a variable expression of hereditary mucoepithelial dysplasia.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SREBF1gene.
Juan Carlos Zenteno, MD, PhD, Genetics Department Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico, jczenteno@institutodeoftalmologia.org