Hereditary Mucoepithelial Dysplasia

Background and History: 

This condition primarily involves the epithelium, the superficial layer of cells on the surface of most exposed tissues of the body.  This includes, of course, the skin, but also the surface of the eye, inside the mouth, vagina, urethra, cervix, and bladder.  It is a rare condition and only a few families have been published since the first report in 1979.

Clinical Correlations: 

The most painful and disabling symptoms are those of the cornea, the windshield of the eye.  The epithelial cells are usually involved in infancy causing photophobia, or severe sensitivity to light.  This is the result of chronic irritation of the corneal surface which in turn eventually results in scarring and the growth of new blood vessels.  The eye is chronically red.  Cataracts are often present, as early as the second decade of life.  Vision is often significantly impaired even in childhood and young adults may be blind.

The mouth and areas around the genitalia usually contain sharply demarcated red patches.  These are generally not painful but during acute flare-ups may be.  Scalp hair, eyebrows, and eyelashes are often sparse.  


Published family trees suggest autosomal dominant inheritance but no gene mutation has been found.  Affected parents often pass on the disease to their children.

Diagnosis and Prognosis: 

The visual symptoms are the most incapacitating with blindness secondary to cataracts and corneal scarring frequently resulting in severe loss of vision, as early as the second decade.  As a result, ophthalmologists and dermatologists often collaborate on the diagnosis.  Nothing is known regarding longevity.

No effective treatment is known.

Additional Information
Autosomal dominant