Epidermolysis bullosa simplex, Dowling-Meara

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Epidermolysis bullosa simplex, Dowling-Meara
TermEpidermolysis bullosa simplex, Dowling-Meara
Short definitionEpidermolysis bullosa simplex, Dowling-Meara (EH-pih-der-MAH-lih-sis boo-LOH-suh SIM-plex, DOW-ling-MEER-uh) A rare, hereditary A condition in which there are many clusters of blisters all over the body, especially on the face, hands, feet, arms, legs and trunk. Blisters can also form in the inner lining of the mouth and other parts of the gastrointestinal tract and upper respiratory tract. 
TypeCancer terms
SpecialtyOncology
LanguageEnglish
SourceNCI
Comments


Epidermolysis bullosa simplex, Dowling-Meara - (pronounced) (EH-pih-der-MAH-lih-sis boo-LOH-suh SIM-plex, DOW-ling-MEER-uh) A rare, hereditary A condition in which there are many clusters of blisters all over the body, especially on the face, hands, feet, arms, legs and trunk. Blisters can also form in the inner lining of the mouth and other parts of the gastrointestinal tract and upper respiratory tract. Other signs and symptoms include scarring, skin color changes, nail problems, and thickening of the skin on the palms and soles. The signs and symptoms usually appear at birth and get better over time. However, infants with a severe form of the disease die within the first year of life. People with epidermolysis bullosa simplex, Dowling-Meara, have a high risk of developing basal cell skin cancer by the age of 55. Epidermolysis bullosa simplex, Dowling-Meara is caused by mutations (changes) in the KRT5 or KRT14 genes. Also called EBS-DM

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