Junctional epidermolysis bullosa

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Junctional epidermolysis bullosa
TermJunctional epidermolysis bullosa
Short definitionjunctional epidermolysis bullosa (JUNK-shuh-nul EH-pih-der-MAH-lih-sis buh-LOH-suh) A rare inherited disorder that causes blisters on the skin and the moist form the inner lining of some organs and body cavities. The blisters usually appear at birth and can appear on specific parts of the body (such as the hands, feet, elbows, and knees) or all over the body (including the mouth and other parts of the digestive tract, eyes, genitourinary tract, respiratory tract, and respiratory tract). 
TypeCancer terms
SpecialtyOncology
LanguageEnglish
SourceNCI
Comments


junctional epidermolysis bullosa - (pronounced) (JUNK-shuh-nul EH-pih-der-MAH-lih-sis buh-LOH-suh) A rare inherited disorder that causes blisters on the skin and the moist form the inner lining of some organs and body cavities. The blisters usually appear at birth and can appear on specific parts of the body (such as the hands, feet, elbows, and knees) or all over the body (including the mouth and other parts of the digestive tract, eyes, genitourinary tract, respiratory tract, and respiratory tract). This can cause scarring and red, bumpy skin that bleeds easily on the affected areas. Other signs and symptoms include deformities of the fingers, toes, nails, and joints; thinning of the teeth; hair loss; difficulty eating and digesting food; slow growth; and poor diet. Some infants with junctional epidermolysis bullosa have a severe form of the disease and may die within the first year of life. Other patients have a mild form and can have a normal lifespan. Some people with this condition are at increased risk of developing squamous cell carcinoma of the skin at an early age. Junctional epidermolysis bullosa is caused by mutations (changes) in the COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, or LAMC2 gene

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