Dyskeratosis, Hereditary Benign Intraepithelial

Background and History: 

This is a benign disorder found almost exclusively in an isolated population in North Carolina.

Clinical Correlations: 

This disorder leads to benign growths of tissue on the outer coat of the eye as well as inside of the mouth and on the tongue.  If the growths become large enough on the eye, it can interfere with vision.  The abnormal tissue does not spread beyond its local area and does not invade tissue.  Often they are covered with blood vessels that make the eye appear red causing cosmetic concerns.  The abnormal tissue sometimes spontaneously falls away.


The dyskeratosis seems to be caused by abnormalities of DNA on chromosome 4.  It is found primarily among members of a triracial isolate in North Carolina.  It can be passed from parent to child in an autosomal dominant pattern.

Diagnosis and Prognosis: 

This is a benign disorder than should be diagnosed by ophthalmologists or oral surgeons since it can resemble more serious growths.  The prognosis is excellent since it is not cancerous.  The growths can be removed but usually no treatment is necessary.

Additional Information
Autosomal dominant