Zinsser-Engman-Cole Syndrome Presenting as Partial Limbal Stem Cell Deficiency.

PURPOSE: To report a case of partial limbal stem cell deficiency and characteristic mucocutaneous triad in an 11-year-old boy.

METHODS

Systemic features along with ocular features are described in this case report.

RESULTS

Ophthalmic evaluation showed bilateral partial limbal stem cell deficiency (LSCD) and systemic examination revealed characteristic mucocutaneous triad of oral leukoplakia, skin hypopigmentation, and nail dystrophy suggestive of the Zinsser-Engman-Cole syndrome or dyskeratosis congenita.

CONCLUSIONS

Thorough ocular and systemic evaluation can help in clinching the diagnosis of this rare condition. Timely referral to a dermatologist and hemato-oncologist would help in the management of life-threatening complications like malignancy or progressive bone marrow failure.