ReviewJournal of dermatological case reports2016
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.
Review in Journal of dermatological case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- When the Cytoskeleton Fails: Primary Structural Defects Underlying Disorders with Neurological Involvement.International journal of molecular sciences · 2026Review
- Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.Journal of neuromuscular diseases · 2025Article
- Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.Iranian journal of public health · 2024Article
- Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.BMC pediatrics · 2024Review
- Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum.PloS one · 2023Article
- Mutation update: The spectra of PLEC sequence variants and related plectinopathies.Human mutation · 2022Article
- Plectin in Skin Fragility Disorders.Cells · 2021Review
- Muscle-Related Plectinopathies.Cells · 2021Review
- Epidermolysis bullosa with clinical manifestations of sepsis and pneumonia: A case report.International journal of surgery case reports · 2021Article
- A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.Journal of veterinary internal medicine · 2020Article
- Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.The British journal of dermatology · 2020Article
- [Research advances in limb-girdle muscular dystrophy type 2Q].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Review
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.BMC dermatology · 2018Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEpidermolysis 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.
conclusionEpidermolysis 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.
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