Symptoms.....

The primary indication of Epidermolysis Bullosa is the eruption of fluid-filled blisters (Bullae) on the skin, most commonly on the hands and feet in response to friction. Blisters of Epidermolysis Bullosa (EB) typically develop in various areas, depending on the type. In mild cases, blisters heal without scarring.

Signs and symptoms of Epidermolysis Bullosa (EB) include:

ü  Blistering of skin — how widespread and severe depends on the type

ü  Deformity/loss of fingernails and toenails

ü  Internal blistering, including on the throat, esophagus, upper airway, stomach, intestines and urinary tract

ü  Skin thickening on palms and soles of the feet (hyperkeratosis)

ü  Scalp blistering, scarring and hair loss (scarring alopecia)

ü  Thin-appearing skin (atrophic scarring)

ü  Tiny white skin bumps or pimples (milia)

ü  Dental abnormalities, such as tooth decay from poorly formed tooth enamel

ü  Excessive sweating

ü  Difficulty swallowing (dysphagia)

EB skin is never able to ever heal properly with normal strength: chronic open wounds and extensive scarring develop with attendant pain. Each time EB skin is damaged, the damage is irreversible and disfigurement and disability accrue over a lifetime.

The chronic wounds of EB can result in decreased mobility owing to pain and the extensive scar tissue that forms. Scarring in turn results in constriction of the mouth or throat or 'mitten' deformities of the hands and feet: for example benefits of surgery to release fingers are of limited duration as scar tissue starts to form again immediately.

For some types of EB, the internal mucosa is also affected: nutrition can be compromised, resulting in osteoporosis and general failure to thrive—quite young children can depend on gastrostomies or require highly specialised diets.