Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

“…EBS was first observed in these patients at birth with continued blistering tendency throughout the life, while a progressive muscular weakness was noted beginning in their 30s. This clinical association has been previously noted in several patients, indicating that this phenotype, inherited in an autosomal recessive manner, is likely to reflect a common pathogenetic mutation, rather than being a coincidental occurrence of these two relatively rare clinical conditions (12)(13)(14)(15)(16). In addition to the hemidesmosomes in the skin, plectin is expressed in sarcolemma of the muscle, and recent immunofluorescence staining of both skin and muscle in patients with EB-MD has revealed absent expression of the HD-1 epitope (17).…”

Nail Involvement in Patients with Epidermolysis Bullosa: A Systematic Review

“…Of the 110 articles retrieved from the electronic databases, 36 articles met the inclusion criteria (Figure 1) 7–41 . Most were case reports and small case series ≤6 patients, except for two 27,41 that reported 18 and 8 patients, respectively.…”

“…Of the 110 articles retrieved from the electronic databases, 36 articles met the inclusion criteria (Figure 1 ) 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 . Most were case reports and small case series ≤6 patients, except for two 27 , 41 that reported 18 and 8 patients, respectively.…”

Infant with congenital erosions of the skin of several fingers and gastroschisis

“…EBS letalis, with associated neuromuscular disorder (AR or AD) [Salih et al, 1985; Niemi et al, 1988; Fine et al, 1989], is a very rare variant first described in 13 Sudanese family members. The disease has been described separately in the past as EBS letalis and EBS with muscular dystrophy (EBS‐MD).…”