Zinsser-Engman-Cole Syndrome Presenting as Partial Limbal Stem Cell Deficiency.
dyskeratosis congenita
limbal stem cell deficiency
telomere
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
13 Oct 2020
13 Oct 2020
Historique:
entrez:
16
11
2020
pubmed:
17
11
2020
medline:
17
11
2020
Statut:
epublish
Résumé
To report a case of partial limbal stem cell deficiency and characteristic mucocutaneous triad in an 11-year-old boy. Systemic features along with ocular features are described in this case report. 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. 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.
Identifiants
pubmed: 33194499
doi: 10.7759/cureus.10933
pmc: PMC7660125
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e10933Informations de copyright
Copyright © 2020, Srirampur et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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