Epidermolysis Bullosa Causes And Treatments

The medical term Epidermolysis Bullosa (EB) refers to a number of genetic skin disorders manifesting in the formation of blisters. Some sources document up to 27 different types of EB but most combine these into three types depending on the layers of skin affected by the blisters. These types are Epidermolysis Bullosa Simplex (EBS), Junctional Epidermolysis Bullosa (JEB) and Dystrophic Epidermolysis Bullosa (DEB). The rare condition, Hemidesmosomal Epidermolysis Bullosa (HEB), has recently been classified. The point in the layers of skin in which the blisters form differentiates the types from each other. Most patients with EB inherited it as an autosomal dominant condition. Occasional recessive cases tend to be more severe. While most cases of EB are diagnosed in infancy and childhood some mild cases may not be recognized until the patient is an adult. Some babies with EB are born with blisters. JEB is an autosomal recessive disorder requiring both parents to carry the gene. Some genetic disorders relate to only one or two genes but mutations in one of 10 genes may cause the symptoms of EB. Over 1000 different mutations of these genes have been detected in patients with EB. Autosomal genetic conditions involve genes on chromosomes other than the X or Y sex dependant chromosomes. This means that equal numbers of males and females develop the condition. A dominant genetic condition is expressed if it is inherited from either parent, as only one copy of the gene is required. A recessive autosomal condition requires the child to inherit the gene from both parents before the condition develops. All of these conditions involve the formation of blisters on the skin or mucous membranes usually as a result of a minor skin injury or a reaction to heat. Most cases of EB are of the EBS form. This most commonly involves blisters to the hands and feet although some cases develop blisters elsewhere on the body. This form rarely leaves scarring when the blisters heal. Up to 90% of cases of EBS are so mild they are not reported to a doctor. JEB in its most severe form causes extensive blistering and death from sepsis or dysfunction of the epidermal layers frequently occurs in infancy. Milder forms of JEB causes nail tooth and hair abnormalities. Blisters within the esophagus are known to cause strictures in such patients. Patients with DEB usually show symptoms at birth or in early infancy. As the blisters heal they leave dystrophic scarring. In severe cases the patient Category:Home › Other • Pomegranates: A newly discovered superfood • Where did the joke why did the chicken cross the road come from and why is it funny? • Can mothers diagnosed with bipolar disorder make good parents? • Spiritual evolution of human consciousness • Tips for getting a college basketball scholarship • Living with Pseudotumor cerebri (PTC) • Caring for the caregiver • Technologys impact on society