Management

Management
Treatment in a multidisciplinary team is recommended and is directed to the symptoms manifested by the patient.

The long-term follow-up of the patients should be coordinated by a Dermatologist.

Special attention should be given to:
•    Skin: Topical corticosteroids for psoriatic-like plaques, emollients, 10% urea lotion for keratotic areas has been employed with slight and temporary benefits. Oral zinc therapy has been reported to improve skin integrity.
•    Early detection of visual disabling problems (keratitis, corneal ulcers, cataracts). Lubricating eye drops, soft contact lenses, and cataract surgery are indicated.
•    Oral hygiene and dentistry management for buccal mucosa inflammation.
•    Other: Early recognition of pulmonary and/or esophageal problems.

No curative treatment is available.

Genetic Counselling
Hereditary mucoepithelial dysplasia has an autosomal dominant inheritance pattern. If the SREBF1pathogenic variant occurred de novo in the patient (i.e. it was not detected in the parents), the recurrence risk in subsequent pregnancies of the proband’s parents is low (<1%). No instances of germinal mosaicism for SREBF1mutation have been documented to date. A patient with a pathogenic variant in SREBF1has a 50% risk (i.e. a probability of 1 in 2) of transmitting this variant to his/her descendants.