Dyskeratosis, Hereditary Benign Intraepithelial
Patient Information
Characteristics
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.
Genetics
Inheritance
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.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
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.
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