Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD)

Evidence-based neurology checklist on epidermolysis bullosa simplex with muscular dystrophy (ebs-md): Genetics This is caused by mutations in the Plectin (PLEC1) gene on chromosome 8 The transmission is autosomal recessive The mutation causes plectin deficiency The median age of onset is 9.5…

Genetics

  • This is caused by mutations in the Plectin (PLEC1) gene on chromosome 8
  • The transmission is autosomal recessive
  • The mutation causes plectin deficiency
  • The median age of onset is 9.5 years: the range is from birth to 35 years

Neurological features

Cardiac features

Dermatological features

Other features

Other investigations

References

  1. Kyrova J, Kopeckova L, Buckova H, et al. Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. J Dermatol Case Rep 2016; 10:39-48. 
  2. Villa CR, Ryan TD, Collins JJ, Taylor MD, Lucky AW, Jefferies JL. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscul Disord 2015; 25:165-168. 
  3. 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; 41:950-956. 
  4. Yiu EM, Klausegger A, Waddell LB, et al. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle Nerve 2011; 44:135-141. 
  5. Yin J, Ren Y, Lin Z, Wang H, Zhou Y, Yang Y. Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia. Int J Dermatol 2015; 54:185-187.
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