UV-sensitive syndrome

UV-sensitive syndrome (pronunciation: yoo-vee sen-si-tiv sin-drohm) is a rare autosomal recessive disorder characterized by cutaneous photosensitivity, solar lentigines, mild freckling, and an increased risk of skin cancer.

Etymology

The term "UV-sensitive syndrome" is derived from the words "ultraviolet" (UV), referring to the type of radiation that causes the condition, and "sensitive", indicating the heightened reaction of the skin to this radiation. The word "syndrome" is of Greek origin, from "syndromē", meaning "concurrence of symptoms, concourse of people".

Symptoms

The primary symptom of UV-sensitive syndrome is photosensitivity, or an abnormal reaction to sunlight. This can result in skin rashes, blisters, and an increased risk of skin cancer. Other symptoms can include solar lentigines, or sun spots, and mild freckling.

Causes

UV-sensitive syndrome is caused by mutations in the UVSSA or ERCC6 genes. These genes are involved in the process of nucleotide excision repair, which is a mechanism that corrects DNA damage caused by ultraviolet (UV) radiation.

Diagnosis

Diagnosis of UV-sensitive syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing. The genetic testing can identify mutations in the UVSSA or ERCC6 genes.

Treatment

There is currently no cure for UV-sensitive syndrome. Treatment is focused on managing symptoms and preventing skin damage. This can include avoiding sun exposure, using sun-protective clothing and sunscreen, and regular skin checks for signs of skin cancer.

External links

Medical encyclopedia article on UV-sensitive syndrome
Wikipedia's article - UV-sensitive syndrome

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UV-sensitive syndrome