Article
Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.
American journal of medical genetics. Part A - 1 Aug 2022
Vishwanathan Gurudatta Baraka, Srinivasa Manoj, Batrani Meenakshi, Kubba Asha, Ghosh Suparna, Gupta Divya, Jayashankar Charitha, Rai Abhigna, Jangond Ajith, Inamadar Arun, Hiremagalore Ravi
Abstract excerpt
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...
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