PDF(Pubmed)
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.
摘要：
Kindler综合征,一种罕见的遗传性大疱性表皮松解症分支，是一种常染色体隐性遗传疾病，其特征是婴儿期出现疼痛性水泡和出血性水泡。随着年龄的增长,水泡的爆发被看到下降，留下纤维化，伤痕累累,和纸一样的皮肤，和变性人的特征。到现在为止,全世界仅报告了大约400例这种疾病。本报告旨在利用发展中国家有限的资源讨论金德勒综合症的存在和诊断。它描述了巴基斯坦血统的年轻男性中临床诊断的Kindler综合征的存在，该综合征始于婴儿期，多年来具有各种临床特征。尽管基因分析仍然是金德勒综合征诊断的黄金标准，对于第三世界国家来说，依靠诊断临床标准仍然有助于建立Kindler综合征的诊断以进行进一步治疗，从我们的病人身上看到的.
