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Epidermolysis bullosa simplex is caused by genetic mutations that prevent the proper formation of protein structures in the skin’s epidermis. The proteins of the outer epidermis do not bond properly with those of the inner dermis layer (dermal-epidermal junction).
Transplanting skin derived from genetically modified stem cells onto the wound surfaces has been studied with a report of improvements in one person. [ 27 ] A 2017 clinical trial with male RDEB ( recessive dystrophic EB ) patients conducted successful grafting of type VII gene corrected keratinocytes (COL7A1 gene correction using retrovirus ...
Ebstein's anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced downwards towards the apex of the right ventricle of the heart. [1] EA has great anatomical heterogeneity that generates a wide spectrum of clinical features at presentation and is complicated by the fact that the ...
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. [1] [2] "Butterfly child" is the colloquial name for children born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly. [3]
Date/Time Thumbnail Dimensions User Comment; current: 20:55, 4 December 2008: 1,609 × 1,035 (994 KB): Stevenfruitsmaak {{Information |Description={{en|1=10-lead ECG of a woman with Ebstein's anomaly (a congenital heart defect in which the opening of the tricuspid valve is displaced towards the apex of the right ventricle of the heart, resulting in a large right atrium).
Ebstein's anomaly – A congenital heart defect that results in the tricuspid valve leaflets being deeper in the heart (toward the apex) than normal. The annulus of the valve is in the correct position, however, and the portion of the ventricle affected becomes "atrialized" with thinner walls.
About 5.4 million basal and squamous cell cancers (the two most common types of skin cancer) are diagnosed each year in the U.S., and about 80% of those are basal cell cancers, the American Cancer ...
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]