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Battling a rarity: A case of kindler syndrome from a developing country.

Authors :
Ahmed A
Zehra T
Moin A
Rehman Usmani SU
Source :
SAGE open medical case reports [SAGE Open Med Case Rep] 2024 Feb 16; Vol. 12, pp. 2050313X241231518. Date of Electronic Publication: 2024 Feb 16 (Print Publication: 2024).
Publication Year :
2024

Abstract

Kindler syndrome, a rare branching of inherited epidermolysis bullosa, is an autosomal recessive condition characterized by the eruption of painful blisters and hemorrhagic vesicles in infancy. With age, the eruption of blisters are seen to decline leaving behind fibrosed, scarred, and paper-like skin, and poikilodermic features. To this date, about 400 cases have been reported worldwide for this disease only. This report aims to discuss the presence and diagnosis of Kindler Syndrome using limited resources in developing countries. It describes the presence of clinically diagnosed Kindler Syndrome in a young male of Pakistani descent that started in infancy and presented with a variety of clinical features over the years. Even though genetic analysis remains the gold standard diagnostic for Kindler syndrome, for third world countries, relying on Diagnostic clinical criteria remains helpful in establishing a diagnosis of Kindler syndrome for further management, as seen in our patient.<br />Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.<br /> (© The Author(s) 2024.)

Details

Language :
English
ISSN :
2050-313X
Volume :
12
Database :
MEDLINE
Journal :
SAGE open medical case reports
Publication Type :
Report
Accession number :
38371949
Full Text :
https://doi.org/10.1177/2050313X241231518