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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]
Tetralogy" denotes four parts, here implying the syndrome's four anatomic defects. [2] This is not to be confused with the similarly named teratology , a field of medicine concerned with abnormal development and congenital malformations (including tetralogy of Fallot).
The human skin is the outer covering of the body and is the largest organ of the integumentary system. The skin has up to seven layers of ectodermal tissue guarding muscles, bones, ligaments and internal organs. Human skin is similar to most of the other mammals' skin, and it is very similar to pig skin.
The epidermis is the outermost of the three layers that comprise the skin, the inner layers being the dermis and hypodermis. [1] The epidermal layer provides a barrier to infection from environmental pathogens [2] and regulates the amount of water released from the body into the atmosphere through transepidermal water loss.
Epidermodysplasia verruciformis (EV) is a skin condition characterised by warty skin lesions. [1] It results from an abnormal susceptibility to HPV infection (HPV). It is associated with a high lifetime risk of squamous cell carcinomas in skin. [1]
Mutations in the gene cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development. Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma -like presentation.