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Epidermolysis Bullosa Simplex with muscular dystrophy (EBS-MD)

Epidermolysis Bullosa Simplex with muscular dystrophy (EBS-MD)

OMIM number: 226670

Comments closing date: 06/04/2020

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Epidermolysis Bullosa Simplex with muscular dystrophy (EBS-MD) is a rare, life-threatening condition which primarily affects the skin and the muscles. It is caused by mutations in the PLEC1 genes. When the PLEC1 genes are working, they produce a protein which provides structure and support to our tissues. However, a person with EBS-MD has mutations in both copies of their PLEC1 genes. This causes different tissues, including the skin and the muscles, to become very fragile. Children with EBS-MD have skin which blisters very easily, including the tissues inside the mouth, the face, and on the soles of the hands and feet. This leads to painful sores which require careful dressing and management. Blistering can be present from birth or from early childhood, and can occur from very little pressure being placed on the body. Unlike other forms of EBS, people with EBS-MD also develop muscular weakness, usually from childhood but occasionally in early adulthood. Case studies have found that muscle weakness can occur from around the age of 8, which is progressive and can result in wheelchair use. Other complications from this condition can include respiratory complications following progressive muscle weakness involving the breathing muscles, which can result in death in childhood or early adulthood.

Review date: 9 March 2022