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 years: the range is from birth to 35 years

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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