Trade Article: Missing Melanin – The ins and outs of Albinism

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Dr Judey Pretorius  explains the genetic condition known as albinism, and how those affected by it can best take care of their skin.

Let’s start at the very beginning by defining precisely what albinism is. Albinism is an inherited disorder that is present at birth. Children are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene responsible for it. This disorder consists of a group of inherited abnormalities of melanin synthesis, and is typically characterised by a congenital reduction or absence of melanin pigment. Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions.

The type and amount of melanin your body produces determines the colour of your skin, hair and eyes. Melanin also plays a role in the development of optic nerves, so people with albinism have vision problems.

Moreover, people with albinism may have to limit their outdoor activities because their skin and eyes are sensitive to the sun. Lack of skin pigmentation increase the susceptibility to sunburn and skin cancers.

Some governmentshave declaredalbinism a disability, due to the fact that, in humans, it is a congenital disorder characterised by the complete or partial absence of pigment in the skin, hair and eyes.

While numbers vary widely (and no comprehensive studies have been conducted), it is reported that in North America and Europe, an estimated 1 in every 17 000 to 20 000 people has albinism. In Africa, it is estimated that 1 in every 5 000 to 15 000 people has albinism, with selected populations having estimates as high as 1 in 1 000.

What are the causes?

Several genes provide instructions for making one of the various proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin, hair and eyes. Humans who do not produce enough melanin have mutations in the genes responsible for melanin production.

The TYR gene (oculocutaneous albinism 1A) helps the body to produce tyrosinase, which is an enzyme found in the specialised cells responsible for producing melanin. This enzyme converts tyrosine into a compound called dopaquinone. Dopaquinone then undergoes several chemical changes, where it eventually becomes melanin.

The TYR gene mutations prevent the normal production of melanin, while the OCA2 gene is responsible for the production of a protein known as P protein (which is a protein that is also found in the specialised cells that produce melanin).

Moreover, the TYRP1 gene is responsible for providing instructions on how to produce tyrosinase-related protein 1, and this enzyme is also found in melanocytes that produce melanin. Some people with albinism have mutations of the TYRP1 gene. The SLC45A2 gene is also responsible for making protein in the cells that produce melanin.

Scientists believe that this gene is responsible for transporting molecules that help the melanin-producing cells function normally.

How is albinism diagnosed?

The most accurate way to diagnose albinism is through genetic testing to detect defective genes we know relate to the disorder. Less accurate ways of detecting albinism include an evaluation of symptoms by a doctor or an electroretinogram test. This test measures the response of the light-sensitive cells in the eyes to reveal eye problems associated with albinism.

Types of albinism

Types of albinism are classified based on how they’re inherited and on the gene that is affected.

  • Oculocutaneous albinism (OCA),the most common type, means a person inherited two copies of a mutated gene – one from each parent (autosomal recessive inheritance). It’s the result of a mutation in one of seven genes, labelled OCA1 to OCA7. OCA causes decreased pigment in the skin, hair and eyes, as well as vision problems. The amount of pigment varies by type, and the resulting skin, hair and eye colour also varies by, and within, type.
  • Ocular albinismis mainly limited to the eyes, causing vision problems. The most common form is type 1, inherited by a gene mutation on the X chromosome. X-linked ocular albinism can be passed on by a mother who carries one mutated X gene to her son (X-linked recessive inheritance). Ocular albinism occurs almost exclusively in males and is much less common than OCA.
  • Albinism related to rare hereditary syndromescan occur. For example, Hermansky-Pudlak syndrome includes a form of OCA, as well as bleeding and bruising problems and lung and bowel diseases. Chediak-Higashi syndrome includes a form of OCA, as well as immune problems with recurrent infections, neurological abnormalities and other serious issues.

Symptoms and complications

People with albinism will have the following symptoms:

  • an absence of colour in the hair, skin or eyes
  • lighter than normal colouring of the hair, skin or eyes
  • patches of skin that have an absence of colour.

The vision problems that occur in albinism may include:

Albinism can present with not only skin and eye complications, but social and emotional challenges as well. People with albinism have skin that is very sensitive to light and sun exposure.

Sunburn is one of the most serious complications associated with albinism because it can increase the risk of developing skin cancer and sun-damage-related thickening of the skin. Problems with vision, on the other hand, can impact learning, employment and the ability to drive.

Protection through skincare 

The presence of pigment in the skin plays a primary role of protection, and melanin is commonly referred to the skin’s natural sunblock. Melanin also plays an integral part in the aesthetic healing of acute, chronic and post-surgical wounds. As a result, skincare treatments and taking precautionary measures are crucial.

Individuals with albinism need to do so much more in order to protect their skin. Wearing long-sleeved clothing, eye protection and a significant amount of sunscreen is one of the simplest steps and key to preventing sunburn.

In order to boost the skin’s immunity, the use of respective topical products with certain ingredients rich in antioxidants, peptides and skin-calming actives is critical to reduce oxidative stress on the skin and to ensure that the moisture content of the dermis is always in a hydrated state.

Additionally, mild exfoliating ingredients in topical products are needed to ensure optimal cell turnover rates to prevent epithelial thickening.

Products that can be applied twice daily – from cleansers and serums to moisturisers – should preferably contain low concentrations of salicylic acid, lactic acid or glycolic acid to enhance the overall barrier function, and to protect the acid mantle integrity of the skin.

The application of products that contain hyaluronic acid will ultimately assist in more hydration for the skin, and the use of products that contain ascorbic acid and retinoic acid will facilitate better tensile strength of the skin, while stimulating more cellular turnover.

It is also advised that individuals with albinism go for regular skin treatments at aesthetic clinics to boost their skin immunity and optimise nourishment, with respective exposure to various ingredients at slightly higher concentrations. A medical aesthetic treatment typically used within practices is the application of Biomedical Emporium’s Melanocyte Growth Factor Serum.

*disclaimer: this is a sponsored product mention by Biomedical Emporium*

This serum is recommended for individuals with a lack of pigment in the skin (including vitiligo). The serum is rich in respective proteins and actives, boosting the immunity of the skin, reducing inflammation and facilitating healthy skin cell proliferation. It is applied by means of microneedling techniques and it is recommended that a client with albinism receives such a treatment once per month.

A2 Disclaimer: This article is published for information purposes only, and should therefore not be taken as an endorsement or advertisement for any product or medical treatment –  nor should it be regarded as a replacement for sound medical advice. 

A2 Trade Magazine Issue 3 (2018)

This article was written by Dr Judey Pretorius and edited by the A2 team EXCLUSIVELY for the A2 Aesthetic & Anti-Ageing TRADE Magazine (Issue 3 – May 2018)

A2 Trade Magazine is a trade-only magazine for those in the medical and professional aesthetic industry. A2 Trade is only printed once a year and released in the month of May. All feature content is focused on the latest innovations, techniques and trends in the aesthetics/ cosmetics industry, for the sole purpose of educating and informing all medical professionals in this field, as well as therapists focusing on skin treatments. We therefore source topic ideas from various local congresses (based on lectures given by the doctors), news from various plastic and aesthetic associations – as well as updates from international workshops and topic suggestions from the physicians on our expert panel.  – click here for more info about where you can buy the print and/or digital copy of A2 Magazine (including back copies).

To make use of any of our content for re-publishing, you must contact info@a2magazine.co.za for approval.

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About Author

Dr Judey Pretorius - Ph.D Pharmaceutical Chemistry, M.Sc. (Biochemistry), B.Sc. Honours Biochemistry, B.Sc. Biological Sciences, Biomedical Scientist - Dr Judey Pretorius is an accomplished Biochemical Scientist and product development specialist, with substantial experience in the disciplines of acute, chronic and post-surgical wound healing, regenerative medicine, and tissue engineering. She holds a Master’s degree in Genetics and Molecular Biology, followed by her Ph.D. degree in Pharmaceutical Chemistry, drug and development design. Dr Judey also gained extensive experience as a Research and Development Formulation Scientist, where she was responsible for Scientific and Biomedical formulation of therapeutic products of premium brands in respective disciplines. Her contributions included cosmeceutical, pharmaceutical and medical device developments.

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