dermatologic disorders
Epidermolysis Bullosa
Symptoms and Signs of Epidermolysis Bullosa
All types of epidermolysis bullosa manifest with painful, inappropriate blistering. Severity of symptoms correlates to severity of blistering and scarring and ranges from mild to severe. Extensive mucocutaneous epidermolysis bullosa of any type can cause severe pain. Widespread skin lesions cause fluid imbalances and protein wasting. Skin lesions may become infected, and infections can become systemic. Mucous membrane involvement may cause malnutrition and failure to thrive, impaired breathing, and genitourinary problems. A mild subtype causes local blistering of only the palms and soles. A severe, generalized subtype causes blistering of the trunk, arms, and neck, and the oral mucosa may be involved. Bullae usually heal without scarring because they lie superficially in the epidermis. Over time, hyperkeratosis develops on the palms and soles, either as focal calluses or as diffuse thickening in severe cases. A mild subtype affects only the elbows, hands, knees, and feet (typical friction sites) and often abates after infancy. Enamel hypoplasia, nail malformations, and alopecia also occur. Healing does not involve extensive scarring. A severe, generalized mucocutaneous blistering may involve large areas of skin and also the conjunctiva, mouth, and gastrointestinal, respiratory, and genitourinary tracts. Characteristic red, moist skin plaques (healing by granulation tissue formation) around the mouth and central face are pathognomonic. Severe bullae heal with scarring because they occur in deeper junctional and dermal levels. Scarring of luminal lesions may cause symptomatic strictures. For example, laryngotracheal stenosis can cause stridor or a weak or hoarse cry, which implies internal involvement and a poor prognosis. Scarring of skin lesions can result in joint contractures and pseudosyndactyly. Mild and moderate subtypes primarily affect only the elbows, hands, knees, and feet. Nail malformations often occur and may be the sole symptom in mild cases. A severe subtype manifests with diffuse mucocutaneous blistering at birth. The entire skin surface and the oral and gastrointestinal mucosa may be affected. Often, wide areas of skin are absent, sloughed during birth. Scarring causes a variety of external and internal complications. Pseudosyndactyly occurs nearly always. Mild bullae heal with nonsevere scarring (worse in the moderate form) and milia. Severe bullae heal with scarring because they occur in deeper levels. Kindler syndrome has no subtypes. Blistering particularly affects the dorsa of the hands and feet. Repeated episodes lead to progressive skin atrophy (thin, wrinkled skin), which can spread to other areas. Photosensitivity, which may be mild, distinguishes Kindler syndrome from the other 3 major epidermolysis bullosa types. Poikiloderma (constellation of skin atrophy, pigment changes, and telangiectasias) is common. Mucocutaneous scarring leads to esophageal and genitourinary stenoses, ectropion, and pseudosyndactyly. Severe Kindler syndrome bullae heal with scarring because they occur in deeper levels. 