Any health illness that is caused due to abnormalities in genes or chromosomes is known as genetic disorder. Genetic disorder may be heritable or non-heritable. Genetic disorders can affect any system of the body including skin…
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Albinism is a typical hereditary skin disease with varied clinical presentation and inheritance. It is mostly present from birth and increases the risk of cancer. It is not curable and there is no specific treatment. It can be a part of syndromes which cause bleeding diathesis and recurrent infections (Okulicz, 2002). In this article, a specific type of albinism, the oculocutaneous type will be discussed. Albinism Albinism is a group of disorders that are hereditary in nature and are related to abnormality in the synthesis or distribution of melanin (Okulicz, 2002). The abnormality of pigmentation manifests in eyes with or without involvement of skin and hair (Park et al, 2012). Thus, clinically, there are 2 categories of albinism. They are ocular albinism where in eyes are involved and skin involvement is either absent or minimal, and oculocutaneous albinism in which skin and eyes are involved. Oculocutaneous albinism may be defined as "a group of congenital heterogeneous disorders in which there is either complete or partial absence of pigment in the skin, hair and eyes because of the absence of or a defect in an enzyme involved in the production of melanin" (Park et al, 2011). In both the conditions, the primary morbidity is related to the eye. The pattern of inheritance in albinism is variable. While the ocular albinism is through autosomal recessive or sex-linked inheritance, oculo-cutaneous albinism is autosomal recessive (Park et al, 2012). ...
In patients with Hermansky-Pudlak syndrome, easy bruising is seen and in those with Chediak-Higashi syndrome, recurrent infections are noted. In X-linked ocular albinism, decreased hearing is seen (Okulicz, 2002). As far as discoloration of eyes, skin and hair is concerned, the range of depigmentation is variable and depends on the type of albinism. The color of the iris is usually blue and can even be brown. The iris will have transillumination defects. The fundus also, in general, is hypopigmented. To broadly classify, there are 2 forms of albinism. The classification is based on the tyrosinase hair bulb incubation test which differentiates between the tyrosinase-positive and tyrosinase-negative forms. In those who are tyrosinase-positive, some degree of production of pigments occurs. In those who are tyrosinase-negative, there is absolutely no pigment production (Okulicz, 2002). Oculocutaneous albinism There are four types of oculocutaneous albinism or OCA (Okulicz, 2002). OCA type 1A is the classic tyrosinase negative type of OCA. In this condition, the infant is born with blue-grey irides, pink colored skin, white hair and predominant red reflex (Wei et al, 2011). The individuals have manifestations of the defects of eye as discussed above. They never develop pigmented lesions like freckles, naevi or lentigines. Hair becomes yellow with age due to denaturation of the keratin following exposure to ultraviolet light. In type1B, the presentation features at birth are similar to those in type 1A. However, as the age advances, the hair color darkens to brown color. The skin can get tanned on exposure to sunlight and can even develop pigmented lesions like naevi and freckles. The
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The disease is hereditary in nature and occurs due to abnormal distribution or synthesis of melanin, a protein which is responsible for pigmentation of the eyes, hair and skin. In the eyes, melanin is present in the iris and retina. (Okulicz, 2002). Melanin synthesis may be completely or partially absent or the distribution can be abnormal.
The term congenital blindness implies that the person has lost visual perception from the time of birth and it is virtually impossible that he would be able to see at any time in point. There are certain measures of blindness, usually there is a misconception and a very grave one, that any one who is termed blind cannot see a thing, this clearly is not the case because there are levels of blindness which emphasize the fact that a person cannot see after a particular level.
Heracles, of course, is the most famous hero, demigod, son of Zeus, the top god in the pantheon of Greek gods. And Theseus is a son of Aegeus, King of Athens, but he is also considered to have two fathers –Aegeus and the wild chthonic god Poseidon. The point is that Theseus?
The paper tells that theory of ethics an act is considered to be morally right if it is acted out of duty. And more importantly, Kant argues that it is the motive behind an action that makes it morally right or wrong and not consequences of the action. Going by this definition, it was ethical of AmeriTrade Toys to move production to chins.
Oculocutaneous albinism (OCA) is a condition/disorder in humans that is characterized by loss of human phonotypical traits such as pigmentation in the eyes, skin and hair; Oculocutaneous albinism is said to be associated with inherited gene
These four elements of physics are important in that each plays a unique role of its own, ranging from keeping the board, ski, or skate on the ground, enabling one to attain heights, perform stunt, and safely return to the ground. The
Human beings especially the ones living in Africa have a dark pigmentation called melanin that prevents absorb and scatter the UVR from the sun and prevent any reaction with the human body cells (Herrling, Thomas, Katinka, Jung and Jürgen 2008:1431). In other areas such as the Western countries, human beings have a lighter skin.
The condition affects Oculocutaneous albinism is categorized into 4 different types (Types I, Type II, Type III and Type IV) and affects people from different ethnic groups as well as from different geographical regions. Types I and II are most common. Americans and African Americans suffer mostly from Type II, while Type III is prevalent among South Africans and Type IV is primarily found among Japanese and Koreans.
The hair color is in turn determined by melanocytes amount in follicles and their nature. Hair color differences can be brought about either by the quantity of melanin in the hair or diverse synthesis of either brown melanin or red/yellow melanin. The OCA2 gene is also known as Oculocutaneous albinism II or the P gene is responsible for the manufacture of a protein known as the P protein contained in the melanocytes.
Functionally, it synthesizes substances of almost all clotting factors necessary in coagulation process. Meanwhile, vitamin K, which is synthesized in the intestine by bacteria, is also necessary for hepatic synthesis of prothrombin, serum prothrombin conversion accelerator or factor VII, plasma thromboplastin component or factor IX, factor X, and protein C.
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