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Zinsser-Engman-Cole Syndrome Presenting as Partial Limbal Stem Cell Deficiency
Arjun Srirampur1, Tarannum Mansoori2, Pravalika Rebbala1
1Department of Cornea, Anand Eye Institute, Hyderabad, IND.
Cureus
|November 16, 2020
Summary
This case report highlights partial limbal stem cell deficiency (LSCD) and a mucocutaneous triad in a boy, suggesting Zinsser-Engman-Cole syndrome. Early diagnosis aids management of serious complications.
Area of Science:
- Ophthalmology
- Genetics
- Dermatology
Background:
- Limbal stem cell deficiency (LSCD) can lead to severe ocular surface disease.
- Zinsser-Engman-Cole syndrome (also known as dyskeratosis congenita) is a rare genetic disorder affecting multiple systems.
Observation:
- An 11-year-old boy presented with bilateral partial LSCD.
- Systemic examination revealed a characteristic mucocutaneous triad: oral leukoplakia, skin hypopigmentation, and nail dystrophy.
Findings:
- The clinical presentation was highly suggestive of Zinsser-Engman-Cole syndrome.
- Ocular findings included bilateral partial limbal stem cell deficiency.
Implications:
- Comprehensive ocular and systemic evaluation is crucial for diagnosing rare conditions like dyskeratosis congenita.
- Early referral to specialists (dermatologist, hemato-oncologist) is vital for managing potential life-threatening complications such as malignancy and bone marrow failure.
