Aashka Suvarnakar, Michelle Schwartz Kahn, Kristina M Derrick, Soodeh Kabir, Sharon A Glick
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交界性表皮松解症（JEB）是一种罕见的机械性皮肤病，其特点是皮肤和粘膜脆弱并形成水疱。在 JEB 病谱中，喉-耳-皮肤（LOC）综合征是一种罕见的亚型，表现为眼睛、指甲、皮肤和喉部肉芽组织过多。迄今为止，LOC 亚型主要与破坏表皮基底膜区的 LAMA3 基因突变有关。我们报告了一例独特的先天性女性患者，她患有大量皮肤糜烂斑、口腔溃疡、甲营养不良和喉部受累，表型与罕见的 JEB LOC 亚型一致。基因检测发现了一种以前未报道过的 LAMB3 基因同源变异（p.C316Y），凸显了 LAMB3 基因中的一种新型变异及其与 JEB LOC 表型的关联。
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Clinical and Experimental Dermatology (CED) is a unique provider of relevant and educational material for practising clinicians and dermatological researchers. We support continuing professional development (CPD) of dermatology specialists to advance the understanding, management and treatment of skin disease in order to improve patient outcomes.
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