Loading...
Battling a rarity: A case of kindler syndrome from a developing country
Zehra, Tasheen
Zehra, Tasheen
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.
MIDER Authors
Citations
Altmetric:
Date
2024-02
Type
Article
Subject
Kindler syndrome, Epidermolysis bullosa, Poikiloderma, Cutaneous manifestations, Developing nations
Collections
An error occurred retrieving the object's statistics
Citation
Alina Ahmed et al. (2024) ‘Battling a rarity: A case of kindler syndrome from a developing country’, SAGE Open Medical Case Reports, 12
Journal / Source Title
DOI
PMID
Publisher
SAGE Open Medical Case Reports