UV-sensitive syndrome

Autosomal recessive - en

UV-sensitive syndrome is a rare genetic disorder characterized by an increased sensitivity to ultraviolet (UV) radiation. This condition is part of a group of disorders known as photosensitivity disorders, which also includes xeroderma pigmentosum and Cockayne syndrome. Individuals with UV-sensitive syndrome exhibit heightened sensitivity to UV light, leading to skin abnormalities and other related symptoms.

Symptoms

The primary symptom of UV-sensitive syndrome is an extreme sensitivity to UV radiation, which can result in:

• Severe sunburns after minimal sun exposure
• Freckling and hyperpigmentation
• Increased risk of skin cancer
• Premature skin aging
• Eye problems such as photophobia and cataracts

Causes

UV-sensitive syndrome is caused by mutations in specific genes responsible for the repair of DNA damage induced by UV radiation. These genes are involved in the nucleotide excision repair (NER) pathway, which is crucial for correcting UV-induced DNA lesions. Mutations in these genes impair the body's ability to repair DNA damage, leading to the symptoms associated with the syndrome.

Diagnosis

Diagnosis of UV-sensitive syndrome typically involves:

• Clinical evaluation of symptoms
• Detailed patient history, including sensitivity to sunlight
• Genetic testing to identify mutations in the NER pathway genes
• Skin biopsy to examine cellular response to UV radiation

Treatment

There is no cure for UV-sensitive syndrome, but management focuses on minimizing UV exposure and protecting the skin. Treatment options include:

• Use of broad-spectrum sunscreens with high SPF
• Wearing protective clothing and UV-blocking sunglasses
• Avoiding sun exposure during peak hours
• Regular skin examinations to monitor for signs of skin cancer

Related Conditions

UV-sensitive syndrome is related to other genetic disorders that affect DNA repair mechanisms, including:

• Xeroderma pigmentosum
• Cockayne syndrome
• Trichothiodystrophy

See Also

• Photosensitivity
• DNA repair
• Nucleotide excision repair
• Genetic disorder

External Links

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