Ahmed Alina, Zehra Tasheen, Moin Alina, Rehman Usmani Shajie Ur
Department of Dermatology, Dr. Ruth K. M. Pfau Civil Hospital, Karachi, Pakistan.
Geriatric Medicine, Sherwood Forest Hospitals NHS Foundation Trusts, Mansfield, UK.
SAGE Open Med Case Rep. 2024 Feb 16;12:2050313X241231518. doi: 10.1177/2050313X241231518. eCollection 2024.
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.
金德勒综合征是遗传性大疱性表皮松解症的一种罕见分支,是一种常染色体隐性疾病,其特征为婴儿期出现疼痛性水疱和出血性水疱。随着年龄增长,水疱的发作会减少,留下纤维化、瘢痕化和纸样皮肤以及皮肤异色症特征。迄今为止,全球仅报告了约400例该疾病。本报告旨在讨论在发展中国家利用有限资源对金德勒综合征的发现和诊断。它描述了一名巴基斯坦裔年轻男性临床诊断为金德勒综合征的情况,该疾病始于婴儿期,多年来呈现出多种临床特征。尽管基因分析仍是金德勒综合征的金标准诊断方法,但对于第三世界国家来说,依靠诊断临床标准对于确诊金德勒综合征以便进一步治疗仍有帮助,就像我们的患者那样。