Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disease affecting skin, mucosae, hair, eyes, and lungs. Prominent clinical features include non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, and involvement of the conjunctival mucosa. It has been reported that HMD is associated with mutations in SREBF1, a transcription factor that controls cholesterol and fatty acid synthesis.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
Diseases or disorders of orofacial complex
DA02 Miscellaneous specified disorders of lips or oral mucosa
H02944 Hereditary mucoepithelial dysplasia
Chacon-Camacho OF, Arce-Gonzalez R, Ordaz-Robles T, Perezpena-Diazconti M, Nava-Castaneda A, Zenteno JC
Title
Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.
Morice-Picard F, Michaud V, Lasseaux E, Rezvani HR, Plaisant C, Bessis D, Leaute-Labreze C, Arveiler B, Taieb A, Trimouille A, Boralevi F
Title
Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.
