Dyskeratosis congenita.

IMPORTANCE

Dyskeratosis congenita is a rare disorder that often leads to early death owing to a variety of complications and associated disorders. Early diagnosis and intervention is important in care for patients affected by this disease.

OBSERVATIONS: We describe a patient with dyskeratosis congenita (DC) in a child. Our patient had a 3-year history of transaminitis that was felt to be the result of biopsy proven progressive fibrosis of the liver beginning at age 3. He was referred to the dermatology department because of a chronic, evolving eruption with the hope of establishing a unifying diagnosis. Further examination revealed dystrophic nails, numerous dental caries, and blepharitis. Chromosomal analysis on leukocytes showed significant telomere shortening consistent with DC.

CONCLUSIONS AND RELEVANCE: Early recognition and long term care is important in patients with DC because of their propensity to develop malignancy, hematologic abnormalities, and infection. Better understanding of this disease may lead to insights into other disorders associated with abnormal telomere maintenance.