Albinism: Treatment, symptoms, advice and help
Albinism is an inherited disorder in which the lack of a colouring pigment called melanin, leads to hair, eye and skin colour changes. The pigment melanin which is responsible for the colour of hair, eyes and skin is normally produced by cells found in the deeper layers of skin. The skin complexion depends on the amount of melanin which is present. Dark skinned people have increased secretion of melanin and vice versa. Likewise absence of melanin synthesis causes pale colouration of the hair, eyes and skin.
Albinism: Incidence, age and sex
Albinism is an inherited disorder and is apparent soon after birth due to its distinguishing physical features. It can be seen in both sexes.
Signs and symptoms of albinism: Diagnosis
Albinism can be easily recognised by its distinguishing physical characteristics which include skin, hair or eyes. The skin complexion is pale and may have many freckles or moles. The colour of hair may vary from white to brown. The eyes are a lighter shade of blue or grey which may cause a mild degree of light intolerance. Some impairment in vision may also be noted. Occasionally rapid and abnormal eye movements termed as nystagmus may be seen. The colour of hair and eyes may change with age. Albinism may be associated with other disorders. Herman-Podlak is one such disorder where albinism co-exists with bleeding disorder and lung disease. An albino who has a history of frequent infections should ideally be referred to a doctor to investigate for a disorder by the name of Chediak-Higashi which is characterized by decrease in number of infection fighting cells, called white blood cells.
Causes and prevention of albinism
This is a genetic disorder in which some genetic alteration in the melanin pigment gene blocks the synthesis of melanin pigment. It is transmitted to the child from the parents. The child is born with albinism only if it has acquired defective genes from both the parents. If the child acquires a defective gene from only one of the parents, then he/she becomes the carrier of that disorder. He/she will fortunately be spared but may transmit this gene to future generations.
The pigment melanin is responsible not only for skin colouring but also offers protection against skin cancer. Lack of melanin increases chances of skin cancer in an albino. Moreover increased skin tanning is observed in a patient of albinism. Typical physical appearance in albinism may also attribute to low self esteem leading to social isolation in rare cases.
Albinism is an untreatable disorder but definitive protective steps may help in preventing any unwarranted complications. It is always advisable to consult an eye specialist for a detailed eye examination. Powered glasses or lens may be used to correct impaired vision. Regular yearly examinations by an eye specialist is recommended. Since protection is one of the primary goals in treatment of albinism, wear full clothing to avoid unnecessary skin exposure to sun. Liberal use of high SPF (sun protective factor) sunscreen lotions protect against ultra violet rays. If albinism is associated with bleeding disorder, repeated infections, cough or breathlessness, please consult a doctor for further evaluation and treatment.