Griscelli Syndrome Type 3

	Griscelli Syndrome Type 3 Griscelli syndrome type 3 is a disorder of melanosome transport presenting initially with hypopigmentation.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . See also Griscelli syndrome Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of di ... References External links Disturbances of human pigmentation Syndromes {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR:* [Wikipedia] [Google] [Baidu]
	Melanosome A melanosome is an organelle found in animal cells and is the site for synthesis, storage and transport of melanin, the most common light-absorbing pigment found in the animal kingdom. Melanosomes are responsible for color and photoprotection in animal cells and tissues. Melanosomes are synthesised in the skin in melanocyte cells, as well as the eye in choroidal melanocytes and retinal pigment epithelial (RPE) cells. In lower vertebrates, they are found in melanophores or chromatophores. Structure Melanosomes are relatively large organelles, measuring up to 500 nm in diameter. They are bound by a bilipid membrane and are, in general, rounded, sausage-like, or cigar-like in shape. The shape is constant for a given species and cell type. They have a characteristic ultrastructure on electron microscopy, which varies according to the maturity of the melanosome, and for research purposes a numeric staging system is sometimes used. Synthesis of melanin Melanosomes are dep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Hypopigmentation Hypopigmentation is characterized specifically as an area of Human skin, skin becoming lighter than the baseline skin color, but not completely devoid of skin pigment, pigment. This is not to be confused with depigmentation, which is characterized as the absence of all pigment. It is caused by melanocyte or melanin depletion, or a decrease in the amino acid tyrosine, which is used by melanocytes to make melanin. Some common genetic causes include mutations in the tyrosinase gene or OCA2 gene. As melanin pigments tend to be in the skin, eye, and hair, these are the commonly affected areas in those with hypopigmentation. Hypopigmentation is common and approximately one in twenty have at least one hypopigmented macule. Hypopigmentation can be upsetting to some, especially those with darker skin whose hypopigmentation marks are seen more visibly. Most causes of hypopigmentation are not serious and can be easily treated. Presentation Associated conditions It is seen in: * Albinism * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Griscelli Syndrome Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli syndrome is associated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities. Signs and symptoms Griscelli syndrome is defined by the characteristic hypopigmentation, with frequent pyogenic infection, enlargement of the liver and spleen, a low blood neutrophil level, low blood platelet level, and immunodeficiency. Very often there is also impaired natu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Disturbances Of Human Pigmentation Disturbance and its variants may refer to: Math and science * Disturbance (archaeology), any change to an archaeological site due to events after the site was laid down * Disturbance (ecology), a temporary change in average environmental conditions that causes a pronounced change in an ecosystem * Disturbance (geology), linear zone of faults and folds * Disturbance (statistics), the deviation of the observed value from the (unobservable) true function value * Serious emotional disturbance, a mental illness * Sudden ionospheric disturbance, an abnormally high plasma density in the D region of the ionosphere caused by a solar flare Arts and media Film * Disturbance (2014 film), a section, and former title, of the film ''Tales of the Supernatural'' * Disturbance (1942 film), ''Disturbance'' (1942 film), an Italian drama film * ''Domestic Disturbance'', a 2001 American psychological thriller film Literature * ''Disturbance: Surviving Charlie Hebdo'', a 2018 book by Philippe Lanço ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]