Abstract：
Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied clinical manifestations. Only one had PA, and none has developed MD to date. All except the one with PA presented with early onset blistering along with laryngeal involvement in the form of hoarseness of voice and nail involvement. Patient with PA presented with aplasia cutis and died in the first week. Two patients had predominantly respiratory and gastrointestinal involvement with varying severity while two had features of myasthenic syndrome but no limb-girdle involvement and one patient phenocopied laryngo-onycho-cutaneous (LOC) syndrome. Using whole-exome sequencing, we identified novel mutations in PLEC. Histopathological analysis (Immunofluorescence antigen mapping) showed absence of staining to plectin antibodies. Our observations propose to append a phenotype of EBS, hoarseness of voice and nail dystrophy or LOC-like phenotype with plectin mutations. Long-term follow up is necessary to monitor for the development of muscular dystrophy.
摘要：
具有plectin突变的单纯大疱性表皮松解症（EBS）是一种非常罕见的EB亚型，通常与幽门闭锁（PA）或肌营养不良（MD）有关。我们报告了来自印度的6名年龄在4至14岁之间的无关儿童，其临床表现各不相同。只有一个人有PA,到目前为止，还没有人开发MD。除PA患者外，所有患者均表现为早发性起泡，并伴有声音嘶哑和指甲受累的喉部受累。PA患者出现角质层发育不全，并在第一周死亡。两名患者主要是呼吸道和胃肠道受累，严重程度不同，而两名患者具有肌无力综合征的特征，但没有四肢带受累，一名患者表现为喉甲皮肤（LOC）综合征。使用全外显子组测序，我们在PLEC中发现了新的突变.组织病理学分析(免疫荧光抗原作图)显示不存在针对plectin抗体的染色。我们的观察建议附加EBS的表型，声音嘶哑和指甲营养不良或具有plectin突变的LOC样表型。长期随访对于监测肌营养不良的发展是必要的。
