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Leucism is often used to describe the phenotype that results from defects in pigment cell differentiation and/or migration from the neural crest to skin, hair, or feathers during development. This results in either the entire surface (if all pigment cells fail to develop) or patches of body surface (if only a subset are defective) having a lack ...
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]
The skin was dry and hard and seemed to be cracked in many places, somewhat resembling the scales of a fish. The mouth was large and round and open. It had no external nose, but two holes where the nose should have been.
The underlying mechanism is a defect in attachment between or within the layers of the skin. Loss or diminished function of type VII collagen leads to weakness in the structural architecture of the dermal–epidermal junction (DEJ) and mucosal membranes. [9]
Aplasia (/ ə ˈ p l eɪ ʒ ə / ⓘ; from Greek a, "not", "no" + plasis, "formation") is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process. [1] [2] Aplastic anemia is the failure of the body to produce blood cells. It may occur at any time, and has multiple causes. [1] [2]
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]
Blue baby syndrome can refer to conditions that cause cyanosis, or blueness of the skin, in babies as a result of low oxygen levels in the blood. This term has traditionally been applied to cyanosis as a result of:. [1] Cyanotic heart disease, which is a category of congenital heart defect that results in low levels of oxygen in the blood. [2]
The subsequent hormonal and physiological distinctions of male and female embryos can explain some sexual differences in frequency of congenital defects. [119] It is difficult to explain the observed differences in the frequency of birth defects between the sexes by the details of the reproductive functions or the influence of environmental and ...