Inherited melanin condition

Albinism

People with albinism are called albinos. It is a rare inherited condition where the amount of melanin pigment in the skin, hair, and eyes decreases. The symptoms of melanin deficiency are white hair, pale skin, and blue eyes. Depending on the lighting, their eyes could appear red. Many also experience vision issues. There is no treatment for this condition. People with this condition must wear sunscreen, hats, and sunglasses to prevent sun damage to their skin and eyes. If you have albinism in your family, a genetic counsellor can help you understand the type of albinism and your chances of having an albino child in the future. A counsellor can explain genetic testing options that are accessible.

Causes: Several genes code for proteins that are involved in the production of melanin. A mutation in one of these genes causes albinism. Depending on which gene alteration caused the condition, various melanin signs might occur. The gene mutation could result in no melanin or a melanin deficiency symptom.

Albinism classifications:

Albinism is classified into types based on how it is passed down in families and the gene that is impacted.

• OCA: Ooculocutaneous albinism (OCA) is the most frequent kind of albinism that occurs when a person inherits two copies of a modified gene, one from each parent. This is referred to as autosomal recessive inheritance. OCA is caused by a mutation in one of eight genes, identified from OCA1 to OCA8. It causes skin, hair, and eye pigmentation loss, as well as eyesight impairments. The amount of pigment varies depending on the type. The hue of the resulting skin, hair, and eyes varies by and within kinds.
• Ocular: It is less frequent than OCA. Ocular albinism affects the eyes primarily, causing visual issues. Type 1 ocular albinism is the most frequent. A gene alteration on the X chromosome causes this kind to be passed down. A mother who passes one altered X gene to her son can pass on X-linked ocular albinism. This is referred to as X-linked recessive inheritance. Males are more likely to have ocular albinism than females.
• Hereditary: Albinism can be caused by rare inherited syndromes. For instance, Hermansky-Pudlak syndrome comprises OCA as well as bleeding and bruising issues with lung and intestinal illnesses. Chediak-Higashi syndrome is characterised by a type of OCA, as well as immunological abnormalities with recurring infections, brain and nerve problems, bleeding disorders, and other significant complications.

Hyperpigmentation

A common condition like hyperpigmentation is not indicative of any medical problem. It is caused by an increase in melanin synthesis. Multiple conditions or factors can influence the generation of excess melanin symptoms in the body. Certain drugs can induce hyperpigmentation.

In addition, several chemotherapy medications or even pregnancy can alter a woman’s hormone levels trigger the condition. Addison’s disease is a rare endocrine disorder that can cause hyperpigmentation in sun-exposed areas, such as the face, neck, and hands, and areas exposed to friction, such as the elbows and knees.

The condition is caused by elevated hormone levels in your body, which leads to an increase in melanin synthesis. Additionally, excessive sun exposure might boost melanin production. Age spots or “liver” spots are a typical type of hyperpigmentation caused by sun damage. These little, darker patches occur on the hands, face, and other sun-exposed areas. In certain instances, dark spots will naturally fade with enough sun protection. Some individuals may require a more aggressive treatment. Although, even with treatment, there is no assurance that the dark patches will disappear.