epidermolysis bullosa simplex with muscular dystrophy

An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.

Signs and symptoms

• Muscle fiber splitting
• Intra-epidermal blistering
• Motheaten muscle fibers
• Abnormal blistering of the skin
• Nail dystrophy
• Increased variability in muscle fiber diameter
• Milia
• Carious teeth
• Short stature
• Keratitis

Also known as: epidermolysis bullosa simplex and limb-girdle muscular dystrophy; limb-girdle muscular dystrophy with epidermolysis bullosa simplex