Xeroderma Pigmentosum

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Xeroderma Pigmentosum

Xeroderma Pigmentosum (pronounced: zee-roh-der-muh pig-men-toh-sum), often abbreviated as XP, is a rare genetic disorder that affects the body's ability to repair DNA damage caused by ultraviolet (UV) light.

Etymology

The term "Xeroderma Pigmentosum" is derived from the Greek words "xeros" meaning dry, "derma" meaning skin, and the Latin word "pigmentosum" referring to the pigmentation changes observed in the skin of affected individuals.

Definition

Xeroderma Pigmentosum is characterized by extreme sensitivity to sunlight, resulting in sunburn and an increased risk of skin cancers such as melanoma, basal cell carcinoma, and squamous cell carcinoma. It also involves abnormalities in the eyes and nervous system.

Symptoms

Symptoms of Xeroderma Pigmentosum typically appear in infancy or early childhood and may include severe sunburn after minimal sun exposure, freckling in sun-exposed areas, dry or rough skin, and changes in skin pigmentation. Neurological problems may also occur in some individuals with XP.

Causes

Xeroderma Pigmentosum is caused by mutations in genes involved in the nucleotide excision repair pathway, a system that helps to maintain the integrity of the DNA in our cells. These mutations lead to a decreased ability to repair DNA damage caused by UV light.

Diagnosis

Diagnosis of Xeroderma Pigmentosum is typically based on the presence of characteristic clinical features and confirmed by genetic testing.

Treatment

There is currently no cure for Xeroderma Pigmentosum. Treatment is focused on managing symptoms and preventing skin damage. This includes strict avoidance of sunlight, regular skin examinations, and prompt treatment of skin cancers.

Related Terms

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