UV-sensitive syndrome: Difference between revisions
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[[File:Autosomal_recessive_-_en.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = UV-sensitive syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = UV-sensitive syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = UVSS | |||
| field = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Photosensitivity]], [[skin abnormalities]], [[freckling]], [[skin cancer]] | |||
| complications = Increased risk of [[skin cancer]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = Mutations in the [[ERCC6]], [[ERCC8]], or [[UVSSA]] genes | |||
| risks = Exposure to [[ultraviolet radiation]] | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Xeroderma pigmentosum]], [[Cockayne syndrome]] | |||
| treatment = [[Sun protection]], [[topical treatments]], [[regular skin examinations]] | |||
| prognosis = Variable, depends on severity and management | |||
| frequency = Rare | |||
}} | |||
'''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 == | == Symptoms == | ||
The primary symptom of UV-sensitive syndrome is an extreme sensitivity to UV radiation, which can result in: | The primary symptom of UV-sensitive syndrome is an extreme sensitivity to UV radiation, which can result in: | ||
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* Premature [[skin aging]] | * Premature [[skin aging]] | ||
* Eye problems such as [[photophobia]] and [[cataracts]] | * Eye problems such as [[photophobia]] and [[cataracts]] | ||
== Causes == | == 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. | 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 == | ||
Diagnosis of UV-sensitive syndrome typically involves: | Diagnosis of UV-sensitive syndrome typically involves: | ||
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* Genetic testing to identify mutations in the NER pathway genes | * Genetic testing to identify mutations in the NER pathway genes | ||
* Skin biopsy to examine cellular response to UV radiation | * Skin biopsy to examine cellular response to UV radiation | ||
== Treatment == | == Treatment == | ||
There is no cure for UV-sensitive syndrome, but management focuses on minimizing UV exposure and protecting the skin. Treatment options include: | There is no cure for UV-sensitive syndrome, but management focuses on minimizing UV exposure and protecting the skin. Treatment options include: | ||
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* Avoiding sun exposure during peak hours | * Avoiding sun exposure during peak hours | ||
* Regular skin examinations to monitor for signs of skin cancer | * Regular skin examinations to monitor for signs of skin cancer | ||
== Related Conditions == | == Related Conditions == | ||
UV-sensitive syndrome is related to other genetic disorders that affect DNA repair mechanisms, including: | UV-sensitive syndrome is related to other genetic disorders that affect DNA repair mechanisms, including: | ||
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* [[Cockayne syndrome]] | * [[Cockayne syndrome]] | ||
* [[Trichothiodystrophy]] | * [[Trichothiodystrophy]] | ||
== See Also == | == See Also == | ||
* [[Photosensitivity]] | * [[Photosensitivity]] | ||
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* [[Nucleotide excision repair]] | * [[Nucleotide excision repair]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Photosensitivity disorders]] | [[Category:Photosensitivity disorders]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 15:32, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| UV-sensitive syndrome | |
|---|---|
| |
| Synonyms | UVSS |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Photosensitivity, skin abnormalities, freckling, skin cancer |
| Complications | Increased risk of skin cancer |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the ERCC6, ERCC8, or UVSSA genes |
| Risks | Exposure to ultraviolet radiation |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Xeroderma pigmentosum, Cockayne syndrome |
| Prevention | N/A |
| Treatment | Sun protection, topical treatments, regular skin examinations |
| Medication | N/A |
| Prognosis | Variable, depends on severity and management |
| Frequency | Rare |
| Deaths | N/A |
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
UV-sensitive syndrome is related to other genetic disorders that affect DNA repair mechanisms, including:
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
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