ALBINISM

It is a heterogenous group of disorders marked by complete absence melanin pigment in the skin, hair and eyes or in the eyes alone. When both skin and eyes are involved it is called oculo-cutaneous albinism (OCA) and when the lesion is limited to eyes only it is called ocular albinism (OA). There are ten types of oculo-cutaneous and four types of ocular albinism. In majority of the cases OCA is transmitted as autosomal recessive character except the one which is transmitted as X-linked recessive character. All these patients have normal numbers of melanocytes but they are unable to produce melanin because of defective melanosomes. Some types are tyrosinase positive while others are negative.

CAUSES

Several genes give instructions for making one of several proteins involved in producing melanin. Melanin is made by cells called melanocytes that are found in your skin, hair and eyes.

Albinism is caused by a change in one of these genes. Different types of albinism can occur, based mainly on which gene change caused the disorder. The gene change may result in no melanin at all or a big decrease in the amount of melanin.

CLINICAL FEATURES

Clinically, the whole skin including the hair are completely white, with eyes showing prominent red reflex especially in tyrosinase-negative types. Both types of patients show moderate to severe photophobia and nystagmus sometimes associated with head nodding. These features are more prominent in bright light. These changes are present at birth and remain so throughout life, though tyrosinase positive patients develop some pigment in the skin, hair and iris with increasing age. These patients may tan and develop dark brown freckles especially in the sun exposed areas. In X-linked ocular albinism only eye symptoms are present, skin and hair shows normal pigmentation. In another type of albinism called yellow mutant type, the hair turn yellow- red in colour by the age of one year. There is an increased sensitivity to sun light and a tendency to develop actinic keratoses, squamous cell carcinoma and occasionally even melanomas which can prove to be fatal if not treated on time.

COMPLICATIONS

Albinism can include skin and eye complications. It also can include social and emotional challenges.

Eye complications : Problems with vision can impact learning, employment and the ability to drive.

Skin complications : People with albinism have skin that is very sensitive to light and sun. Sunburn is one of the most serious complications of albinism. Sun exposure can cause sun damage, which may result in rough and thickened skin. Sunburn also can increase the risk of developing skin cancer.

Because of the lack of skin pigment, a type of skin cancer called melanoma may appear as pink or red growths or moles, rather than the usual black or brown color. This can make skin cancer harder to identify at an early stage. Without careful and regular skin exams, melanoma may not be diagnosed until it's advanced.

Social and emotional challenges

Some people with albinism may experience discrimination. The reactions of other people to those with albinism can have a negative impact on people with the condition.

People with albinism may experience bullying, teasing or unwanted questions about their appearance, eyewear or visual aid tools. They may look different from members of their own families or ethnic groups, so they may feel like outsiders or be treated like outsiders. These experiences may cause social isolation, poor self-esteem and stress.

Using the term "person with albinism" is preferred to avoid the negative impact of other terms.

PREVENTION

If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests.

TREATMENT

There is no treatment available. However, the patient's skin should be protected from sunlight by covering maximum body surface with clothes and applying local sunscreen. Patients should be advised to work mostly indoor. Regular check up for premalignant and malignant lesions is useful. It can be managed well with few of the homoeopathic medicine so that condition doesn’t increases day by day.

Few of the medicine helps in managing the case is:

Nitricum Acidum: This remedy is one of the best effective remedies in treating albinism. Affected parts are more in the hands and legs. Usually suited in children accompanying symptoms of low vision. A person requiring this remedy tends to be restless sensitive, dissatisfied. Albinism causes feelings of anxiousness and fear of death Also there is the tendency of herpes, chilblains, cracks, and creases. Mentally patients are very pessimistic complaints are aggravated more in the evening and night and better while riding.

Causticum: This is also one of the best remedies for the known cases of albinism. Ailments occur from long-lasting grief and sudden emotions. Soreness is marked which appears in folds of skin, back of ears, and between thighs. Skin prone to intertrigo during dentition. Also the tendency to warts formation.

Phosphorus: This is also one of the best remedies for albinism. There is inflammation of mucous membrane, suited to tall slender narrow thin people. Mentally patient has a dread of death when alone. oversensitive to external impressions restlessness present. Purpura haemorrhagia. Complaints aggravate more on change of weather and due to physical and mental exertion .better in the open air.

Lycopodium: This is one of the best remedies for skin problems. This remedy is adapted to symptoms that are gradually developing. Emaciation is well marked. Patient desires everything warmth. melancholic, Extreme sensitive, apprehensive, cannot bear new things. Skin appears to be dry, indurated thick and shrunken with violent itching brown freckles and spots appear on the skin. complaints aggravate more in warmth.

Sulphur: This remedy is often prone to complaints which relapse. Mentally patient is very irritable, vivid, depressed, weak, childish peevishness in grown people. Very selfish no regard for others .skin is dry scaly indurated. itching burning all over the skin, excoriation in folds of skin Pruritis especially after warmth. Complaints aggravate more on washing, warmth feeling and better by cold.