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Albinism: A Multi Disease Disorder

albinism-a-multi-disorder-disease

"ALBINISM"

What is Albinism? Do you have some idea about it? Have you ever seen your dreamy white prince/princess with white hair and eyebrows ? Lol. Because your prince/princess have a disorder and she/he is not normal lol. Every person is beautiful in its own way.

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What is Albinism?

Albinism is a genetic mutated disorder (so it is incurable) in, your tone responsible pigment "MELANIN' is insufficient in amount or may be absent completely in ectoderm derived organs.

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We have many organs which are meaningless without their color like hair or hair consist areas like eyebrows. Indeed you would never like your boyfriend/girlfriend with white eyebrows or white cotton like cloudy underarms. It explain us how the pigment "MELANIN" is important for beautifying our features like skin, hair, eyebrows and eyes.

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Actually, Albinism is a multi disease disorder, that fetches many kinds of pathological conditions with it. You may have skin cancer due to hypersensitivity of the skin towards UV rays/sun rays. You may have squinting eyes , dermatitis, blindness, or some abnormal feature adoption towards your surrounding people.

According to recent research, albinism occur in one person among 20,000 to 22,000 people and mostly happens in African countries.

TYPES:

On their affects on different areas , we divided albinism into two :

1) Ocular Cutaneous Albinism:

This is the most severe type of albinism as, it affects all MELANIN containing areas like complete skin, every type of hair, and eyes. A person usually have multiple disorders with it like it causes blindness at ophthalmological site, white pale skin appearance with hyperpigmentation ,for you need to apply a strong sunscreen after every 4 to 6 hours, white hair with eyebrows and at other hairy areas. These are basic symptoms that occurs at any cost but along all these, so many more disorders comes with it as it is a group of phenotypically genetic disorder but the biggest risk is of SKIN CANCER.

Till now, there have been seven different types of OCA: OCA1, OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 but they are not explain broadly by medical scientists as they are asymptomatic on broad spectrum.

2) Ocular Albinism:

This is less severe than the first type as it only affects eyes, the optic nerve fibers. Due to which, a person may have strabismus or astigmatism or nystagmus or blindness. We know, seeing is the biggest blessing of GOD and If a person can't see this beautiful universe, Definitely, this is a difficult obstacle of life.

SYNDROMIC TYPES OF ALBINISM:

There are two types of syndromes which are associated with albinism which we call as "SYNDROMIC ALBINISM"

1) HERMANSKY-PUDLAK SYNDROME (HPS)

2) CHEDIAK HIGASHI SYNDROME (CHS)

Both these syndromes doesn't involve in lack of production of melanin but in distribution of melanosome ,melanin producing organelles contained by melanocytes, but they both shows same type of symptoms as OCA/OA because deletion/mutation occur in same type of gene. However they involves genes that encoded for proteins (which are more significant for cellular functions) . Cellular abnormalities occur due to mutation/deletion like lysis of cellular material that leads to diathesis and infection.

Differential Diagnosis Between Syndromic or Non Syndromic Albinism:

1- Congenital Nystagmus

2- Hypo pigmentation.

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3- Diathesis

PATHOPHYSIOLOGY:

Our colored areas are due to the presence of melanin, that contained by melanocytes which present in ectoderm derived organs. There are two types of melanin: Eumelanin and Pheomelanin. Eumelanin is responsible for protection and black/brown skin or hair color. While Pheomelanin is responsible for light tone skin or red/blonde hair color.

In OCA, mutation of gene occur that is responsible for Eumelanin synthesis which leads to complete absence of Eumelanin, that causes white pale appearance of skin, blindness, dermatitis.

Melanin involves in the designing of optic nerve , fovea Centralia , optic route. However refractive errors or blindness occur due to its insufficiency.

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Risk Factor:

1) Skin Cancer

2) Dermatitis

3) Depression

4) Acne

Diagnosis:

1) Physical Examination

2) Genetic Testing

In both diagnostic ways, physical examination is first line diagnosis for albinism.

Treatment:

As albinism is a genetic disorder so it is completely incurable but we can control or treat it's symptoms like we can treat refractive errors by giving contact lenses to the patient. For skin protection, a patient should use sunscreen with high SPF after every 4-6 hour . Also, patient can consult by doctor for other skin conditions like hyperpigmentation, Dermatitis, acne.

Worst Side Of Albinism:

The most worst or weird effect of albinism has on patient is low self esteem , low confidence level due to the behavior of surrounding people. Patients mostly starts to hate themselves, their appearance, their features, their presence and all the things about them which is the lowest kind of anxiety/depression. We should cut off these things from society so the people like this can live their life normally

Difference Between Albinism and Vitiligo:

Albinism is a genetic disorder and very rare in population. Also, in albinism patient has white pale skin appearance with white hair or eyebrows (as you can see the title picture of this article). While, vitiligo is due to immunodeficiency and is very common in population. Also , in vitiligo, there are white patches on different sites of the body but not the whole body turns into one tone color like albinism.

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