Epidermolysis bullosa simplex with muscular dystrophy

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), also known as EBS with late-onset muscular dystrophy or plectin-deficient EBS, is a rare autosomal recessive disorder caused by mutations in the PLEC gene, which encodes plectin, a critical cytoskeletal linker protein. Plectin plays an essential structural role in both the skin and muscle, anchoring intermediate filaments to cellular attachment sites. Loss of functional plectin leads to fragility in both epithelial and muscle tissues. The condition typically presents at birth or in early infancy with generalized skin blistering, which may be mild to moderate in severity. Blisters occur predominantly at sites of friction or trauma and heal without significant scarring, consistent with the simplex (intraepidermal) level of skin cleavage. Progressive muscular dystrophy usually develops later, often in childhood or adolescence, and manifests as proximal limb-girdle muscle weakness that worsens over time, potentially leading to significant disability and wheelchair dependence. Additional features may include nail dystrophy, dental abnormalities (including enamel defects), mucosal involvement, and in some cases pyloric or urinary tract atresia. There is currently no cure for EBS-MD. Management is supportive and multidisciplinary, involving careful wound care to minimize skin blistering and infection, physical therapy and rehabilitation to preserve muscle function, and monitoring for respiratory and cardiac complications associated with progressive muscular dystrophy. Orthopedic interventions may be needed as muscle weakness progresses. Genetic counseling is recommended for affected families.

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