Q:

What are the symptoms of epidermolysis bullosa, a rare skin disease?

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Quick Answer

Epidermolysis bullosa most commonly causes fluid-filled blisters on the skin from friction, according to Mayo Clinic. Children may also develop severe fingernail and toenail deformities or scarring, blistering and hair loss on the scalp. The hands and feet are most susceptible to symptoms, including skin thickening on the palms and soles. Some children have difficulty swallowing or suffer from tooth decay and other dental issues.

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Full Answer

Other possible symptoms of epidermolysis bullosa include tiny pimples or patches of thin skin, known as atrophic scarring, Mayo Clinic states. Depending on the variant, some children may suffer from internal scarring in areas such as the esophagus, mouth, airways and vocal cords. The incurable condition is often hereditary and usually manifests by early childhood, but some cases don’t develop until adolescence or later.

Symptoms of the disorder vary significantly, depending on the specific type or subtype a child has, the National Organization for Rare Disorders states. For example, epidermolysis bullosa simplex typically causes blistering on the uppermost skin layer, the epidermis. Most cases don’t cause scarring, but children develop thickened fingernails or toenails and calluses on the hands and feet. In contrast, infants with junctional epidermolysis bullosa, subtype Herlitz, have a high mortality rate due to infection, dehydration, respiratory complications and malnutrition.

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