Mediscene -IT’S ONLY SKIN DEEP

By Kumudini Hettiarachchi

The young woman walks in clutching a bundle of cloth to her bosom. Gently unwrapping it, she says: "Den konde thamba pata tikkak adui." (The copper colour is less now.)

The beautiful infant, a boy, is very fair with curly hair the colour of burnished copper. As the doctors sit her in a corner of the Lady Ridgeway Hospital's Skin Clinic and take down the case history, one can only imagine the barbs and unkind remarks that the young woman would face not only from her own family and in-laws but also from neighbours and friends.

After such a birth, the husband may very well have suspicions about the paternity of the baby, unaware that it is a skin problem that makes the baby, unusually fair.
This is albinism, which in recent times has been in the news with Albinism Associations protesting against the stereotyping of people with this condition in the form of the violent Silas who goes on a killing spree in the best-selling book, The Da Vinci Code, released this week as a controversial movie.

"Albinism results from an inherited defect in melanin synthesis," says Consultant Dermatologist Dr. Jayamini Seneviratne, explaining that melanin is a chemical in our bodies that colours our skin, eyes and hair. Made by melanocytes, melanin is also the principal pigment in the human skin that protects us from ultra-violet light. "Melanin absorbs and disperses UV light which would otherwise harm our bodies."

Melanocytes are pigment-containing cells found in the bottom layer of the epidermis. The melanin synthesized there is transferred to 36 adjacent epidermal cells constituting the epidermal melanin unit.
The melanin is synthesized in structures called melanosomes and it is the number of melanosomes in melanocytes that determines the skin colour and not the number of melanocytes in the skin, he says.

"The main enzyme involved in melanin synthesis is tyrosinase, the function of which is determined by two genes. If both genes are defective, then the condition called albinism results. There are around 90 different types of albinism," Dr. Seneviratne explains, adding, "Tyrosinase related proteins play a lesser important role in melanin synthesis. Deficiency of this leads to Brown Albinism."

Meanwhile, the melanin synthesized is stored and transferred to other tissues. Defects in these steps could also lead to albinism-related conditions characterized by light skin, silver hair, eye problems and a number of other problems, according him. (Eg: Hermnasky Pudlak Syndrome, Chediak-Higashi Syndrome and Griscelli Syndrome, described in box)

According to Dr. Seneviratne albinism is a condition that cannot be cured or treated but certain measures can be taken to improve the quality of life of those affected.

"Corrective eye-wear, surgical correction of ocular abnormalities and use of sunscreen are the answers while bone marrow transplantation can be carried out in Chediak-Higashi Syndrome and Griscelli Syndrome," he adds.