MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1177/2050313x241231518

Медицинская библиотека · SAGE open medical case reports · 2024

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

Ahmed Alina, Zehra Tasheen, Moin Alina, Rehman Usmani Shajie Ur

Клинический случайСтатьяПеревод в очереди

Аннотация

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.

Для цитирования: Ahmed Alina, Zehra Tasheen, Moin Alina, Rehman Usmani Shajie Ur. Battling a rarity: A case of kindler syndrome from a developing country.. SAGE open medical case reports. 2024. DOI: 10.1177/2050313x241231518.
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.