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Albinism: Causes, African specificities and treatment

albino african childAlbinism is a rarenon-communicable and hereditary recessive disease. Present throughout the world, it affects any type of individual regardless of gender or origin.

It is caused by a set of genetic mutations affecting melanogenesis. Affected individuals have an abnormal number of melanocytes and are commonly unable to produce Eumelanins (brown/black pigment) and Pheomelanins (Yellow/Orange). This depigmentation mainly gives albinos a very light skin color, white hair and blue eyes.

In reality, there are different subtypes of Albinism, two of which: Oculocutaneous Albinism type 2 and 3 which are very specific to black, matte and mixed skins. This article will allow you to understand the distinction between an albino of European and African origin. To know their care and the possible complications related to their disease but also to realize and understand the persecution of albinos in Africa.

What are the different types of Albinism ?

Albinism is a broad disease grouping different subtypes and related syndromes. They are classified according to the different genes affected, their clinical consequences and the severity of the disease.

The 4 major types have been identified:

  • Oculocutaneous albinism type 1 is the most serious. It is caused by a tyrosinase mutation. Affected subjects have white skin and hair and blue eyes. It is the most serious form because they are the only ones to have a total absence of melanin during their lives.
  • Oculocutaneous albinism type 2 is caused by the mutation of the AOC2 gene coding for protein p. Affected subjects have light brown hair and skin. Their iris is grey.
  • Oculocutaneous albinism type 3 or Roufus/ Roux is caused by the mutation of the AOC3 gene coding for the enzyme TYRP1. Affected subjects have coppery skin, red hair and a brown iris.
  • Oculocutaneous albinism type 4 is caused by the mutation of the SLC45A2 gene coding for the MATP protein.

What is the specificity of albinos of African origin ?albinism treatment

The frequency of occurrence of the different subtypes of Albinism is different among affected populations. Oculocutaneous albinism types 2 and 3 are very present in Africa. The prevalence of AOC 2 is 1/500 in an African population as opposed to 1/40000 in Europe. The prevalence of AOC 3 is 1/8500 in Africa and is considered rare elsewhere.

These tyrosinase-positive albinisms are more apparent in subjects with pigmented skin because their mutations cause structural and/or functional changes in key mechanisms of eumelanin synthesis (initially the majority in this type of person).

For AOC 2: It is the p protein that is mutated. This has an impact on the proper transport of tyrosine and tyrosinase to the site of action of melanogenesis. It also modifies the formation of melanosomes by deregulating their intraluminal pH. This alters the eumelanin-phenomelanin balance.

For AOC 3: It is the enzyme TYRP1 that is mutated. Being one of the main enzymes for the synthesis of eumelanins, this directly influences the pigmentation of people with pigmented skin.

Thus, albinos of African origin have different genetic and therefore clinical specificities from subjects of Caucasian origin. They are therefore not identical.

 

What are the complications of Albinism ?

Albinism is responsible for various complications :

Cutaneous : The skin becomes thicker and rougher. Actinic keratoses (red and crusty lesions), hyperpigmentation spotstelangiectasias (dilation of small vessels) may appear. More serious is the high possibility of developing skin cancers such as basal cell carcinomas or squamous cell carcinomas. In rare cases, melanomas occur most often in non-photo-exposed areas.

Ophthalmics : Albinism is responsible for 5-10% of visually impaired people in the world. This is caused in part by the possible appearance of Nystagmus (repeated and involuntary eye movements most often horizontal) or strabismus (non-aligned eyes). In addition, photophobia (intolerance to light) is very common in albino subjects.

Daily adaptation : Albinos are condemned to never drive because of their visual deficiencies. This also leads to delays in school education and a real lack of professional opportunities. They are very limited people.

What is the treatment of Albinism ?

Apart from melanin-related disorders, subjects with albinism have the same skin characteristics as normal skin. Thus, on a daily basis, it will be important for them to determine their skin types and possible skin problems (hyperpigmentation spots, acne or eczema) in order to provide their skin with a care protocol specific to their needs.

However, since albinos frequently experience skin and visual complications, they require regular medical care and even surgery in some cases. The following actions are therefore necessary in order to limit their appearance :

  • Ophthalmologic consultations to avoid eye complications.
  • Dermatological consultations to treat pre-malignant and malignant skin lesions.
  • Daily use of emollient skin care to calm skin inflammation.
  • The daily and repeated application every two hours of UVA UVB index 50 sun creams.
  • Avoid exposure to the sun if possible between 12h-16h because during this period, UV rays are the most active and dangerous.
  • Wearing wide-brimmed hats, long-sleeved shirts, pants and sunglasses are strongly recommended to protect yourself as much as possible from UV rays.
  • Drink at least 2 liters of water per day to avoid skin dryness. 

sun cream for albino black skinWhy is the sun the Albino's number one enemy ?

The Ultra-Violet rays of the sun are very dangerous for a subject suffering from Albinism.

Melanin is responsible for skin pigmentation but it also has a photo-protective role. It protects the keratinocyte nuclei from the harmful effects of the sun's UV rays. Indeed, in contact with the skin, they create free radicals responsible for the appearance of burns (sunburn), skin dehydration, hyperpigmentation spots, actinic keratoses, accentuation of skin aging but also genetic mutations causing skin cancer.

It has been proven that people with black, matt and mixed skins, due to their high concentration of Eumelanins, have a natural sun protection of index 15. Hence their lower sensitivity to the sun than Caucasian skins.

On the other hand, the skin of subjects suffering from albinism being totally deficient in melanin or possessing very little, their skin is very sensitive and vulnerable to these radiations. This is why they develop so many skin complications. The sun is therefore a real danger for albinos, especially in Africa. Therefore, it is very important for them to protect themselves effectively, by applying sunscreen, anti-UV clothing if possible etc.

Violence and discrimination against Albinos in Africa: What is the situation today ?


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