Epidermolysis Bullosa

Epidermolysis Bullosa: Facts, Statistics and Medical Overview Epidermolysis bullosa is largely an inherited skin disorder, although some non-genetic variations of the ailment do exist. Epidermolysis bullosa also varies widely in the severity of its manifestations, spanning from minor blistering to a lethal form of the disoder, in which the constant massive blistering and scarring may ultimately lead to an infant's death. The hallmark of the conditions that constitute the different manifestations of Epidermolysis bullosa are the formation of large, fluid-filled blisters develop in response to minor trauma.

Some infants may have large blisters at birth. Others infants may manifest this condition shortly after birth. (Drayer, 2003) Epidermolysis bullosa is one of the most common of a collection of skin ailments known as "keratin disorders." They are all characterized by external blistering with relatively mild internal involvement. Lesions typically heal without scarring, except in the variations of Epidermolysis bullosa delineated above.

(Markinovich, 2002) The risks of the disorder Epidermolysis bullosa arise from the fact that in its most severe forms, scarring after blister formation may cause deformities, fusion of the fingers and toes, and eventual scarring of the esphogus that may cause difficulty with the suffer's feeding. The ailment may be analogously likened to the easy bruising and bleeding of Hemophilia. In the condition of Epidermolysis bullosa, rubbing, or even increased room temperature may cause blisters to form.

(Drayer, 2003) Risk factors, because of the largely genetic source of the ailment, may be defined as a family history of Epidermolysis Bullosa on the part of the potentially affected individual. The goal of treatment for the ailment is to prevent the formation of blisters and subsequent complications. The intensity of care depends upon the severity of the disease. Recommendations to mitigate the severity often include measures to avoid all skin trauma and to avoid high environmental temperatures. Severe forms may require constant medical intervention.

(Drayer, 2003) The most severe subtypes are known as "Koebner, Dowling-Meara," and the "Weber-Cockayne" forms. Another variant associated with mottled pigmentation has been described in several families. (Markinovich, 2002) Infancy the most critical time for patients manifesting this disorder, though of course, generalized blistering caused by any subtype may be complicated by infection, sepsis, and death.

Severe forms of increase the mortality risk during infancy, and patients with the "Herlitz or letalis form of JEB have the highest risk during infancy with an estimated mortality rate of 87% during the first year of life." In patients with EB that survive childhood, the most common cause of death is metastatic squamous cell carcinoma, which is thought to result from the trauma of the frequent skin blistering and the increased exposure to the sun of less protected skin because of the blistering and bleeding.

(Markinovich, 2002) There are some positive prognostic factors about the illiness. Firstly, most of its manifestations are mild, and once the critical natal stage is passed on the part of the patient, most individuals.