Edrees Souma, Jarkas Natalie, Hraib Munawar, Al-Yousef Khaled, Baddour Roula
Departments of Dermatology.
Faculty of Medicine, Tishreen University, Latakia, Syria.
Ann Med Surg (Lond). 2023 Apr 6;85(5):2077-2080. doi: 10.1097/MS9.0000000000000503. eCollection 2023 May.
Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur" lanugo hair". This is a case of a 13-year-old Syrian child, who presented with difuse fine face hair, and serious urinary complications. Kindler syndrome is characterized by acral skin blistering beginning at birth, diffuse cutaneous atrophy, photosensitivity, poikiloderma, and various mucosal findings. Highlighting a set of clinical diagnostic criteria; which is used only if a genetic test is not available.
金德勒综合征是一种罕见的常染色体隐性遗传病。作者报告了一例具有独特表现的病例，“胎毛”这种情况在医学文献中从未有过报道。这是一名13岁的叙利亚儿童病例，其表现为面部弥漫性细毛，伴有严重的泌尿系统并发症。金德勒综合征的特征是出生时即出现肢端皮肤水疱、弥漫性皮肤萎缩、光敏性、皮肤异色症以及各种黏膜表现。强调了一组临床诊断标准；仅在无法进行基因检测时使用。
