Biswal Anisha, Kar Bikash Ranjan, Mahajan Rahul, Mohapatra Liza, Kumar Anoop
Department of Dermatology, Institute of Medical Science and SUM Hospital, Kalinga Nagar, Bhubaneswar, Odisha, India.
Department of Dermatology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Indian Dermatol Online J. 2025 Sep 1;16(5):782-784. doi: 10.4103/idoj.idoj_1064_24. Epub 2025 Aug 19.
Plectinopathies, the spectrum of diseases caused by plectin gene ( PLEC ) mutations, have a wide range of manifestations, mostly extracutaneous, like pyloric atresia, muscular dystrophy, and cardiomyopathy, along with cutaneous tense blistering. Differently spliced exons give rise to various isoforms, which have definitive functions in different cell types and tissues. We report a case of a 14-year-old girl presenting with features of tense pruritic vesicles and bullae on extremities and trunk since childhood. She was diagnosed with intermediate epidermolysis bullosa simplex, having nonsense PLEC mutation at exon 1. The uniqueness of the case is the absence of extracutaneous manifestations and her dramatic response to dapsone.
斑珠蛋白病是由斑珠蛋白基因（PLEC）突变引起的一系列疾病，临床表现多样，大多为皮肤外表现，如幽门闭锁、肌肉萎缩症和心肌病，同时伴有皮肤紧张性水疱。不同的剪接外显子产生各种异构体，它们在不同的细胞类型和组织中具有明确的功能。我们报告一例14岁女孩，自幼四肢和躯干出现紧张性瘙痒性水疱和大疱。她被诊断为中间型单纯性大疱性表皮松解症，外显子1存在无义PLEC突变。该病例的独特之处在于没有皮肤外表现，且对氨苯砜有显著反应。
