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Doctor insights on: Xeroderma Pigmentosa

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How do I know if I have xeroderma pigmentsum?

How do I know if I have xeroderma pigmentsum?

Genetic Testing: There are several types of xp (xeroderma pigmentosa) all of which are related to genetic defects in the ability of cells to repair dna damage causes by uv (ultraviolet rays). Xp dramatically increases your risk for skin cancer. You should start with seeing a dermatologist and go from there. If there is suspicion you may have the disease, genetic testing will be required to confirm this. ...Read more

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What is xeroderma pigmentosum?

What is xeroderma pigmentosum?

Xeroderma pigmentosu: Xeroderma pigmentosum is a condition which makes people very sensitive to the sun (uv rays). It can cause severe sun burning & freckling of skin. It is called xeroderma because it can dry the skin out and pigmentosum because there is added skin pigment. It can affect the eyes and may be associated with a number of other symptoms. ...Read more

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How could xeroderma pigmentosum be cured?

How could xeroderma pigmentosum be cured?

No cure: As far as i know there is no cure for this disease. The treatment primarily involves avoiding all uv exposure including sunlight. It is a genetic disase and very rare. ...Read more

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What are the treatment options for xeroderma pigmentosum?

What are the treatment options for xeroderma pigmentosum?

Careful observation: This congenital condition requires sun avoidance and very close observation by an experienced dermatologist and/or plastic surgeon. Suspicious lession must be monitored and biopsies are essential to rule out malignancy. ...Read more

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What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia ?

What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia ?

Deficiency in some : part of cell mechanisms that detect & repair damage to DNA molecules that encode their genome occur in 5 inherited diseases: ataxia-telangiectasia (AT), Fanconi anemia, Bloom syndrome, Cockayne syndrome & Xeroderma Pigmentosum (XP).7 different mutant repair genes cause XP; types A, C, D & E are on Chromosome 9q.22. Mutations in ATM genes cause AT. Groups A,C,D & E are on Chromosome 11q2. ...Read more

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Can you tell me me about retinal pigmentosa?

Can you tell me me about retinal pigmentosa?

Retinal disease: This is an inherited retinal disease that creates difficulty with night vision and can progress to significant visual loss.There is no current treatment. ...Read more

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What is retinis pigmentosa; what happens to the eyes?

What is retinis pigmentosa; what happens to the eyes?

Genetic Disease: Retinitis pigmentosa is a group of inherited disorders that cause degeneration of the retina and vision loss. The condition can be inherited in multiple ways and has a variety of symptoms. The most common ones are night blindness and gradual loss of peripheral vision. There is currently no proven treatment, however gene therapy is being explored as a possibility. ...Read more

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What is retinitis pigmentosa?

What is retinitis pigmentosa?

Rare: Rare group of inherited (all types) retinal disease leading to blindness over years due to photoreceptor loss / cell death from various specific protein mutations affecting the retina and retinal pigment epithelium. ...Read more

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What is retinitis pigmentosa?

What is  retinitis pigmentosa?

Hereditary condition: It is a complex combination of hereditary conditions that affect the photoreceptors. Its a degenerative process that can be caused by a number of mutations and depending on the type, vision loss can begin as early as soon after birth to as late as in your middle age. Sometimes vision loss can be mild enough that you may not realize you have it. ...Read more

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How was retinitis pigmentosa discovered?

In error: The original disease was described in europe due to the profound visual loss. The scattering of pigment reminded the eyedocs of pigment seen in syphilitic retinal disease, and so it was called "retinitis" indicating an inflammatory, possibly infectious origin. Only later was it found to be hereditary with many forms and progressions. ...Read more