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Doctor insights on: Xeroderma Pigmentosum

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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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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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Pityriasis alba, vitiligo, tsc?

Pityriasis alba, vitiligo, tsc?

Using this site: You get the most from this site when you provide background information on a problem and ask a related question. What you have posted is a question with no context and initials that have no common meaning. You are welcome to start over. Site docs volunteer their time to answer your questions. Any site fees keep it open. ...Read more

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Could retinitis pigmentosa cause heterochromia?

Could retinitis pigmentosa cause heterochromia?

Heterochromia of the: iris is not directly associated with RP. If the iris is affected it is usually due to an iritis (which can occur with RP). If you do notice lightening of the iris with your RP you should go to your ophthalmologist immediately since an untreated iritis can cause permanent damage. ...Read more

Dr. Alfred Kim Dr. Kim
2 doctors agreed:
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What gene causes lupus erythematosus?

Dr. Alfred Kim Dr. Kim
2 doctors agreed:
What gene causes lupus erythematosus?

Many genes: The previous answer is right with several genes associated with lupus, but no one knows how those genes cause disease. I think it's important to remember that there is likely many ways to develop lupus symptoms, and this will vary between people. So some of these known genes will be important for some, and not important for others. As we sequence more patients, we'll have more answers. ...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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Is leucoderma hereditary?

Is leucoderma hereditary?

Leukoderma: Leukoderma is the name given to white patches on the skin. These patches are due to the partial or total loss of skin pigmentation. There are many causes of leukoderma. Vitiligo is a specific type of leukoderma and is often, although incorrectly, used interchangeably with the term leukoderma (sometimes spelled leucoderma). Genetics is only one cause as there are also other causes. ...Read more

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Is vitiligo genetic?

Is vitiligo genetic?

Vitiligo: It can be genetic. It can also be seen with other auto-immune diseases such as pernicious anemia, thyroid disease and type 1 diabetes. ...Read more

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Is scleroderma genetic?

Yes: In certain groups such as the choctaw population in oklahoma there is a strong genetic component. There is also a difference in populations between the different continents. ...Read more

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Is macular amyloid curable by glycolic acid peels?

Is macular amyloid curable by glycolic acid peels?

No: Macular amyloid is related to age-related macular degeneration, a condition in the retina. Glycolic acid peels of the skin will not help. ...Read more

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What is incontinentia pigmenti - rare genetic condition?

What is incontinentia pigmenti - rare genetic condition?

Incontinentia: pigmenti is an uncommon inherited disorder of an incomplete IKBKG gene that causes increased tendency for certain body cells to self-destruct. It is more common in women and primarily affects the skin, eyes, nails and teeth. Most people are spared neurologic involvement, but delayed development, intellectual impairment and seizure may occur. ...Read more

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Guttate hypomelanotic macules, what is this?

Guttate hypomelanotic macules, what is this?

Ideas: This is often an age-related change on the shins and forearms of middle aged folks. It's not really treatable and not dangerous. If it comes and goes, rule out tines versicolor. If it keeps popping up in new places, consider vitiligo. ...Read more

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Anyone heard of incontinentia pigmenti a rare genetic condition?

Anyone heard of incontinentia pigmenti a rare genetic condition?

Rare X linked pbm: Ip is a rare multisystem affliction that is seen in girl infants & fatal to males in the womb. Incidence estimates run 1/40000-1-50000 births. It appears sometimes as a blistering rash, warty or just increased pigmentation in a swirling or streaking pattern. For a more see: www.Ncbi.Nlm.Nih.Gov/pmc/articles/ pmc2729954/?Tool=pmcentrez. ...Read more

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Does porgyria suffers from rarest skin disease?

Does porgyria suffers from rarest skin disease?

Progeria: There are a variety of diseases, all genetic and uncommon, in which the person's skin has some features of an older person's from the time of birth. None is true mimic of fast aging. No one knows what the rarest skin disease is, because we discover new ones monthly and the rarest is surely undiscovered. But if you have progeria, it's a challenge and you have my sympathy. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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Vasculitis skin ailment?

Vasculitis skin ailment?

Many Causes: Vasculitis is inflammation of blood vessels. It can show signs in the skin. But it may also be internal and affect many organs. There are a wide range of causes and they should be evaluated promptly. In general, it can be caused by infection, medications, auto inflammatory conditions, cancer, as well as many others. If it is serious, it can lead to death. Get is checked out. ...Read more