FAQ - Pachyonychia Congenita
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genetic disorder... Pachyonychia Congenita?


i have horrible skills searching through thousands upon thousands of data for a specific topic. i am a junior so if you guys can give me information not to see or too complicated...

ths paper is about a genetic disorder called Pachyonychia Congenita
my research is on the genetic events behind the disorder (meiosis & mitosis)
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Hi there,

Pachyonychia Congenita - A hereditary syndrome marked by abnormal thickness and elevation of the nail plates, palmar and plantar hyperkeratosis, and a whitish and glazed tongue due to papillary atrophy. Also called Jadassohn-Lewandowsky syndrome.

Meiosis - The special process of cell division in sexually reproducing organisms that results in the formation of gametes, consisting of two nuclear divisions in rapid succession that in turn result in the formation of four gametocytes, each containing half the number of chromosomes that is found in somatic cells.

Mitosis - The process in cell division by which the nucleus divides, typically consisting of four stages, prophase, metaphase, anaphase, and telophase, and normally resulting in two new nuclei, each of which contains a complete copy of the parental chromosomes. Also called karyokinesis.

These are the basics of your topic (Just the basics). If you need more detailed information, you could look these up on certain medical websites.

webmd.com
righthealth.com
uptodate.com
wrongdiagnosis.com

Don't know which sites will have more info., but I'm sure one of them will give you some more. Not really sure what you were looking for as far as an answer? Instead of me just typing forever with a bunch of info. you might not need, it's probably best you go to one of those sites.

Good luck on your report, and take care!  (+ info)

I was diagnosed with Paramyotonia Congenita 12 years ago, are there any others out there to talk to?


I feel all alone with this disorder. My doctor doesn't understand and my specialist does not care. I need to know what are and are not things that other people go through so I can evaluate myself. Thanks.
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I have a disorder in the same family called Periodic Paralysis Disorder..I am tryng to remember what yours involves...stiffning up, spasms? I go the other way and become totally paralyzed. I have the stiffning sometime in my tongue and can't swallow or talk. I may not understansd your exact condition, but I know how frustrating it is to not know anyone with it...mine is 1-200,000 people. My town doctors don't understand me either I drive hundreds of miles to see specialists and finnally found a semi local neurologist and he does what he can, I am his first patient with it. I am here if you want to talk...I know alot of your pain. [email protected]  (+ info)

Are there special shoes that a person can wear that is diagnosised with pachyonychia congential?


The person has blisters on his feet while standing or walking too long. I need to find out is there something available for this person to wear on his feet to avoid getting blisters and avoid discomfort.
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People with this condition sometimes opt for custom-made special shoes with rubber soles. I don't know of any source for ready made shoes that are specific to pachyonychia congenital.

Most opt for sensible, flat, thick soled shoes but patients have told me that they often have to go store to store and sometimes try on up to 100 pairs before they find a pair that is comfortable for them. The brand that works for one person, may not work for another.

They also wear "wicking socks" a specific type of socks the keeps moisture away from the feet. This site will give you lots of links for wicking socks.
http://www.ehow.com/buy_14589_wicking-socks.html  (+ info)

My son was born with APLASIA CUTIS CONGENITA, and at one year of age why is it becoming red and scabby?


For the first year of his life, the patch of hairless skin was the color of the rest of his skin, but at 1 year of age it is changing color to a pinkish-red. It is also feeling like a bump now. Why?
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go to the Doctor. SOON!  (+ info)

has anyone ever heard of a skin condition called aplasia cutis congenita?


my son was born with a bald spot in the middle ofhis head and the doctors said thats what it is and they recommended plastic surgery but hes 3 and im afraid something bads going to happen? any advice?
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Go for the surgery. Skin is a primary protection of the body. If bugs can penetrate it big problem. The secondary protection system comes to play (the immune system). Some of the bugs are can cause serious problem because they are not even supposed to end up in an area they are not supposed to. As with the head, it is more dangerous. I suggest that you go ahead with the plastic surgery. Decision is still yours. I am not coercing you in any way but advising.  (+ info)

What's the treatment of Type 2 pachyonachya congenita involving lateral border of tongue with steatocystomas?


You may have better luck in your own searches if you use the spelling pachyonychia congenita. Though I don't work with genetics, dermatology or oral surgery, so I am not sure of the current best therapies for this condition. I know that they are doing some testing using siRNA injections in the dermal lesions, but I have not read any information about oral lesions.

I hope you posted this in dental also.  (+ info)

Anyone out there with Paramyotonia Congenita?


I was diagnosed with it about 3 months ago after they did a boat load of tests. Anyone out there whose had for a while that might be able to tell me what to expect? I'm 16 btw.
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http://en.wikipedia.org/wiki/Paramyotonia_congenita  (+ info)

What is icthyosis congenita?


I need the Latin roots broken down and the full definition! what is this?
thank you!
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ichthyosis congenita is how it is really spelled....

Definition

Derived from the Greek word meaning fish disease, ichthyosis is a congenital (meaning present at birth) dermatological (skin) disease that is represented by thick, scaly skin.

Description

The ichthyoses are a group of genetic skin diseases caused by an abnormality in skin growth that results in drying and scaling. There are at least 20 types of ichthyosis. Ichthyosis can be more or less severe, sometimes accumulating thick scales and cracks that are painful and bleed. Ichthyosis is not contagious because it is inherited.

The most common form of ichthyosis is called ichthyosis vulgaris (vulgar is Latin for common), and occurs in approximately one person in every 250 and is inherited in an autosomal dominant manner. The most rare types of ichthyosis occur in fewer than one person in one million and are inherited in an autosomal recessive manner. Ichthyosis occurs regardless of the part of the world the child is from, or the ethnic background of the parents.

hope this helps some....  (+ info)

Has anyone with Paramyotonia Congenita AND Hyperkalemic Periodic Paralysis tried carbonic anhydrase inhibitors?


*Note* I'm NOT asking about HYPOkalemic periodic paralysis or thyrotoxic periodic paralysis.
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No. I don't recommend to do so.  (+ info)

Is there a cure for myotonia congenita?


(m)

There is no known cure for myotonia congenita, and treatment is supportive as needed. The use of anticonvulsant drugs (quinine, phenytoin) can relieve some symptoms of the disease along with physical therapy and other rehabilitative measures to assist in muscle function. Genetic counseling may be valuable.

Progression: This disorder causes discomfort but is not life-threatening. In Thomsen type myotonia congenita, symptoms stabilize after onset and do not progress with age. Becker type is a progressive disorder that tends to initially affect muscles in the legs. Within a few years, muscles of the arms are affected, and, eventually, the muscles of the jaw (masticatory) and face become involved.  (+ info)

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