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

Arjun Srirampur; Tarannum Mansoori; Pravalika Rebbala

doi:10.7759/cureus.10933

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

Cureus. 2020 Oct 13;12(10):e10933. doi: 10.7759/cureus.10933.

Authors

Arjun Srirampur¹, Tarannum Mansoori², Pravalika Rebbala¹

Affiliations

¹ Department of Cornea, Anand Eye Institute, Hyderabad, IND.
² Department of Glaucoma, Anand Eye Institute, Hyderabad, IND.

Abstract

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.

Keywords: dyskeratosis congenita; limbal stem cell deficiency; telomere.

Publication types

Case Reports