It is a genetic disorder which causes complete or partial absence of melanin pigment characterized by whitening of skin in the eyes, hairs, cuticles. Melanin is a substance that is found in our skin, hair, and eyes which protects us from harmful UV rays from sunlight, that may cause skin cancer. Albinism is also known as achromatosis or achromia or achromasia.
Albinism is caused due to deficiency of an enzyme tyrosinase-which is a copper-containing enzyme which is responsible for the synthesis of melanin pigment by producing OCA1 genotype. It is also caused due to a mutation in the human TRP-1 gene which is responsible for the synthesis of melanin pigment and therefore results in a third OCA3 genotype –oculocutaneous albinism. It can be recessive as well as an X-linked genetic disorder.
People with albinism have a higher risk of getting skin cancer such as melanomas. It’s always a good idea to consult your doctor if you see any new lump or patches of skin that changes in color or size or shapes. Important preventive measures one can take are: