Limb-Girdle Muscular Dystrophy with Epidermolysis Bullosa Simplex



The disease is characterized by skin blistering (epidermolysis bullosa) usually evident in the neonatal period (manifesting as fragility and skin denudation occurring spontaneously or after friction or trauma), associated with a limb-girdle muscular dystrophy (MDEBS) with variable onset, leading to wheelchair bound even at early age, and high mortality [1–3]. Skin blistering continues throughout the life, and it may be associated with enamel hypoplasia and nail dystrophy, abnormal dentition, rapid decay of teeth, urethral strictures, scarring alopecia, palmoplantar hyperkeratosis, pyloric atresia, respiratory complications, and laryngeal webs [1].


Epidermolysis bullosa Plectin Skin blistering Myasthenic syndrome 


  1. 1.
    Shimizu H, Takizawa Y, Pulkkinen L, et al. Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature. J Am Acad Dermatol. 1999;41:950–6.CrossRefPubMedGoogle Scholar
  2. 2.
    Salih MAM, Lake BD, El Hag MA, Atherton DJ. Lethal epidermolytic epidermolysis bullosa: a new autosomal recessive type of epidermolysis bullosa. Br J Dermatol. 1985;113:135–43.CrossRefPubMedGoogle Scholar
  3. 3.
    Niemi KM, Sommer H, Kero M, Kanerva L, Haltia M. Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. Arch Dermatol. 1988;124:551–4.CrossRefPubMedGoogle Scholar
  4. 4.
    Smith FJD, Eady RAJ, Leigh IM, et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet. 1996;13:450–7.CrossRefPubMedGoogle Scholar
  5. 5.
    Pulkkinen L, Smith FJD, Shimizu H, et al. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet. 1996;5:1539–46.CrossRefPubMedGoogle Scholar
  6. 6.
    Gache Y, Chavanas S, Lacour JP, et al. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996;97:2289–98.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Bolling MC, Pas HH, de Visser M, et al. PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. J Invest Dermatol. 2010;130:1178–81.CrossRefPubMedGoogle Scholar
  8. 8.
    Villa CR, Ryan TD, Collins JJ, et al. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscul Disord. 2015;25:165–8.CrossRefPubMedGoogle Scholar
  9. 9.
    Forrest K, Mellerio JE, Robb S, et al. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord. 2010;20:709–11.CrossRefPubMedGoogle Scholar
  10. 10.
    Selcen D, Juel VC, Hobson-Webb LD, et al. Myasthenic syndrome caused by plectinopathy. Neurology. 2011;76:327–36.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2018

Authors and Affiliations

  1. 1.IRCCS Fondazione S.Camillo HospitalUniversità di Padova, Dipartimento di Neuroscienze PadovaVeniceItaly

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