Imagine being born lacking anchors that hold the layers of the skin together. The skin is so fragile that just the slightest touch can damage and tear the tender skin, leaving agonizing, weeping, open sores that get infected easily. The sores are like second degree burns and can occur all over the body.
The life of these unfortunate individuals is cut so short that most of the children born with one the severe forms of EB usually do not reach their teen years, frequently dying in early infancy. This inherited disorder is known as Epidermolysis bullosa or EB.
Fortunately this condition is extremely rare, affecting approximately 50 out of one million live births. Infancy is especially difficult for EB patients as infection, sepsis and even death are very common. The mortality rate of some forms of EB is as high as 87% during the first year of life.
There are several forms of Epidermolysis bullosa ranging from very mild to extremely severe and can affect all areas of the body, including tissues, mucous membranes, internal organs and structures and their functions. The most common cause of death in patients with one type of EB, a recessively inherited form, is metastatic squamous cell carcinoma. This particular skin cancer occurs specifically in individuals with the recessively inherited form of the disease known as Herlitz or letalis form and commonly affects patients between the ages of 15 and 35.
Conditions such as skin blisters, skin erosion, scarring, adhesion formation, mottled skin pigmentation, muscular dystrophy, dental abnormalities (including abnormal enamel formation and tooth decay), pyloric atresia (obstruction in the passage from the stomach to the small intestines), deformed or absent finger and toe nails, and damage to the hair follicles resulting in subsequent baldness are all seen in ED.
Other problems include multi-system involvement, especially of the eye structures, the trachea, mouth, esophagus, rectum, genitourinary and respiratory systems; mitten-like hand and foot deformities and, as the sufferer ages, contractures of the extremities. Malabsorption and anemia and overall malnutrition are frequent; and failure to thrive is often a leading cause of death in infants with Epidermolysis bullosa.
Prenatal genetic diagnosis is currently available for EB-affected families. Also, Epidermolysis bullosa can be identified as early as 8-10 weeks into the pregnancy by fetal skin biopsy or during the second trimester by amniotic fluid examination.
EB is a lifelong genetic disease and there is no effective treatment. No drugs are known to correct the underlying defects. Treating the symptoms is the only method to deal with EB. The skin must be covered with gauze and ointments to prevent and protect the wounds.Careful surveillance is mandatory to watch for wound infections. Oral and topical antibiotics and whirlpool baths are used to help prevent skin infections and treat infections when they do occur. Skin grafting is frequently necessary. Oral steroids and saline rinses are sometimes helpful for mouth lesions, but prolonged use of steroids must be avoided to prevent steroid-induced complications. Protein therapy may be useful as some types of EB are related to a protein defect or deficiency.
Dilation of the esophagus is needed to relieve pain from strictures. A gastrostomy tube (G-tube) is inserted to provide nutrition when esophageal strictures are present. Splinting the limbs and fingers at night may help prevent contractures. Sometimes surgery is needed to restore hand and finger function when contractures have occurred.
Nutritional management is extremely important. Increased caloric and protein intake is mandatory for wound healing. Mouth, esophageal and GI lesions greatly threaten the nutritional well-being of patients with Epidermolysis bullosa as well as strictures, dysphagia (difficulty swallowing ), diarrhea, malabsorption and dental problems.
Physical therapy is critical as inactivity is another problem EB patients face. The pain and scarring cause contractures to form limiting movement which is essential in maintaining range of motion and mobility.
EB is a lifelong disease. Some types of EB, especially the milder forms, improve with age. Good patient and family education is essential in dealing with Epidermolysis bullosa.
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