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The affected genes, KRT5 and the KRT14, which are responsible for the creation of keratin 5 and keratin 14 proteins respectively, are tied to the four major types of epidermolysis bullosa simplex. However, a small number of epidermolysis bullosa simplex patients do not have mutations in their KRT5 and KRT14 genes.
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 ...
The human skin consists of two layers: an outermost layer called the epidermis and a layer underneath called the dermis. In individuals with healthy skin, there are protein anchors between these two layers ( dermo-epidermal junction ) that prevent them from moving independently from one another (shearing).
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]
In order to ensure the transplanted kidney is recognised as ‘self’ by Major Histocompatibility cells, immunosuppression drugs are used post operation. Immunosuppression medication may include calcineurin inhibitor, antimetabolite and methylprednisolone and assist in suppressing the immune system 's response to the transplanted kidney [ 14 ]
Piebaldism refers to the absence of mature melanin-forming cells (melanocytes) in certain areas of the skin and hair. It is a rare autosomal dominant disorder of melanocyte development. [ 2 ] : 867 Common characteristics include a congenital white forelock , scattered normal pigmented and hypopigmented macules and a triangular shaped ...
In other mammals, they are relatively sparse, being found mainly on hairless areas such as foot pads. They reach their peak of development in humans, where they may number 200–400/cm 2 of skin surface. [5] [6] They produce sweat, a merocrine secretion which is clear, odorless substance, consisting primarily of water. These are present from birth.
It is associated with a high lifetime risk of squamous cell carcinomas in skin. [1] It generally presents with scaly spots and small bumps particularly on the hands, feet, face, and neck; typically beginning in childhood or a young adult. [1] The bumps tend to be flat, grow in number, and then merge to form plaques. [1]