Albinism and Urticaria | Medical Science Optional Notes for UPSC PDF Download

Albinism

• Albinism is a genetic condition that affects the production of melanin pigment in the skin, hair, and/or eyes.
• This condition is observed in individuals of all racial and ethnic backgrounds worldwide.
• People with albinism often experience vision problems that cannot be corrected with eyeglasses, and many have reduced visual acuity.
• Vision issues in albinism are attributed to the underdevelopment of the retina and abnormal nerve connections between the eyes and the brain.
• The diagnosis of albinism is confirmed by the presence of these eye problems.

Types of Albinism

• Individuals with albinism typically exhibit very light skin and hair, but the degree of pigmentation can vary based on the type of albinism.
• Oculocutaneous albinism (OCA) affects the eyes, hair, and skin, with seven recognized forms: OCA1, OCA2, OCA3, OCA4, OCA5, OCA6, and OCA7.
• Ocular albinism (OA), a less common type, primarily impacts the eyes, while the skin and hair may appear similar or slightly lighter than those of other family members.
• Ocular albinism (OA1) results from a mutation in the GPR143 gene, which plays a crucial role in signaling and is particularly significant for eye pigmentation.
• Additional syndromes related to albinism include Chediak-Higashi Syndrome and Griscelli Syndrome.

Treatment 

• Due to the fair complexions of individuals with albinism, it is crucial to prevent sun damage to the skin and eyes by taking precautions like using sunscreen, wearing hats, sunglasses, and sun-protective clothing.
• Treatment primarily focuses on visual rehabilitation.
• Surgery may be considered to correct strabismus, improving the eyes' appearance. However, it doesn't address issues related to the misrouting of nerves from the eyes to the brain, eyesight, or fine binocular vision.
• Surgical intervention can also be an option for correcting esotropia or "crossed eyes," potentially improving visual fields (the area that the eyes can see while focusing on one point).
• Nystagmus, characterized by involuntary eye movements, may be managed through surgical interventions as well.

Urticaria

• Urticaria, commonly known as hives, is a skin vascular response characterized by the temporary emergence of raised, red wheals or plaques with a smooth surface. These wheals are often accompanied by intense itching.
• In the majority of instances, urticaria is a self-limiting condition, typically lasting for a short period. The outbreak seldom persists for more than a few days but might recur intermittently within weeks.
• Chronic urticaria is specifically identified as urticaria with recurring episodes that extend beyond a duration of six weeks.

Urticaria-Causes

• Food Allergies: Allergic reactions can be triggered by certain foods, including tree nuts, peanuts, eggs, shellfish, and tomatoes.
• Drug Allergies: Virtually any medication has the potential to cause an allergic response.
• Insect Bites: Allergic reactions can occur in response to bites from various insects.
• Infections: Acute urticaria can be associated with infections such as acute viral syndromes, hepatitis (A, B, and C), Epstein-Barr virus, and herpes simplex virus.
• Cryoglobulinemias: Conditions involving abnormal proteins in the blood, known as cryoglobulinemias, can lead to urticaria.
• Serum Sickness: An allergic reaction to certain medications or antiserums can cause serum sickness.
• Autoimmune Causes: Conditions like systemic lupus erythematosus, rheumatoid arthritis, juvenile rheumatoid arthritis, or other rheumatologic diseases are rare but potential causes of urticaria.
• Hypothyroidism and Hyperthyroidism: Imbalances in thyroid function, either hypothyroidism or hyperthyroidism, can be associated with urticaria.
• Pregnancy: Urticaria may occur during pregnancy as part of the body's response to hormonal changes.

Urticaria-Management