Clinical Characteristics

What characteristics do patients with hereditary mucoepithelial dysplasia have in common?
Individuals with hereditary mucoepithelial dysplasia manifest problems in hair, skin, and mucosae (mucus-secreting tissues that line the body's hollow organs, canals, and cavities). They present absence of scalp hair (alopecia), fiery red gum/palate, and skin lesions, especially in perineal and joint surface regions. Ocular anomalies are frequent and can include inflammation and/or ulcers in the cornea, photophobia (abnormal intolerance or sensitivity to light) and cataracts.

What other health implications may be associated with hereditary mucoepithelial dysplasia?
Children may have visual disturbances due to eye alterations. Also, pulmonary and esophageal problems have been observed in some patients. Frequent respiratory infections and chronic diarrhea have been also reported in some individuals with the disease.

What may a hereditary mucoepithelial dysplasia diagnosis mean for the future of my child?
Most children with this diagnosis have anomalies in skin, hair, and eyes. Psychomotor development is not affected by the disease. Early treatment and surveillance by dermatologists, ophthalmologists, and geneticists is crucial for opportune detection and management of associated anomalies.