Background: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented. Main observations: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed. The signs of plectin deficiency were found by histopathological studies, electron microscopy and antigen mapping of the skin and muscular samples. Two autosomal recessive mutations in the plectin gene leading to premature termination codon were disclosed by mutation analysis. By review of all published clinical cases, 49 patients with this disease were found. 54 different mutations in the plectin gene were published, p.(Arg2319*) in exon 31 being the most frequently found. Median age of muscular dystrophy development was 9.5 years. Hoarseness and respiratory complications were the most often complications beside skin involvement. Conclusion: Epidermolysis bullosa simplex with muscular dystrophy was diagnosed based on clinical, histopathological (skin and muscle biopsy) and mutation analysis of the plectin gene. Overview of the genetic and clinical characteristic of this disease could be presented by review of all previously published clinical cases. (J Der-
DEAR EDITOR, Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders characterized by blister formation. Classification of patients with EB begins with their separation into one of the four major EB groups, based on the level to which blisters develop: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. The next level of subclassification takes into account the clinical features present in a given patient, most notably the distribution and severity of cutaneous and extracutaneous disease involvement. 1,2We started DNA analysis of EB in 2005 when polymerase chain reaction (PCR) direct sequencing of COL7A1, KRT5 and KRT14 was introduced in connection with clinical, ultrastructural and immunohistochemical analysis. 3,4 In 2014, we implemented PCR direct sequencing of TGM5 and the solution-based capture method SeqCap EZ Choice Library (Roche NimbleGen; Roche, Basel, Switzerland) and targeted resequencing. A custom capture array was designed to capture exons and adjacent intron sequences of 83 genes associated with genodermatoses, of which 18 genes are associated with an EB phenotype [TGM5, PKP1, DSP, JUP (suprabasal EBS); KRT5, KRT14, PLEC, EXPH5, DST (basal EBS); COL17A1, LAMA3, LAMB3, LAMC2, ITGA6, ITGB4, ITGA3 (JEB); COL7A1 (DEB); and FERMT1 (Kindler syndrome)].
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