Talk:Neurofibromatosis

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Added a brief and simplistic section on the hereditability of the diseases, which might be relevant to an a wikipedia reader. This is my first contribution to wikipedia so I'm uncertain how to handle citations -- since I'm not geneticist or neurologist, I can't easily evaluate what is common knowledge and not, and I chose to cite the handbook, though the authors of the handbook do not themselves provide citations for these facts.

I suggest that we find an official list of diagnostic criteria and use the same wording for the symptoms. This would add some authority and possibly clean up the language.

There is potentially enough material out there to fork the neurofibromatosis article into two (NF1 and NF2) but I am against the idea because it would require going into greater depth than I think appropriate for an encyclopedia and would increase the amount of material that would have to be maintained.

We do already have articles for Neurofibromatosis type I and Neurofibromatosis type II. --Arcadian 15:04, 15 January 2006 (UTC)

[edit] Six subtypes

I'm honestly bothered that the six rare 'sub types' are listed. Some of the subtypes were solely found by Dr. Vincent Riccardi, or have such a few documented cases I don't believe the classifications of sub types have any strong stance as sub types, rather rare variants of this disorder. I find odd is that segmental neurofibromatosis is not listed, which is likely to be more common these six sub types and some of the sub types could be considered segmental neurofibromatosis.


For the sake of educating the general public I think it is better to leave the sub-types out. The OMIM links are of little value to the lay public newly seeking information on NF

Purplesnappy 03:37, 7 March 2006 (UTC)

I have to agree that there are more than six variants. For example I have a vision that only appears as (large) tumors on (mostly-only) the right side of my body. There are sub versions that show Neurofibromatosis as affecting only the left or right site of one's body. What sub-versions I can't say for sure. I for one who is a sub-variant have to say that it is critical to include the sub-types. Bdelisle 08:55, 22 May 2006 (UTC)

[edit] NF-related groups

Perhaps it's time to do write-ups on some of the NF-related groups that do not have articles (e.g. Neurofibromatosis, Inc.) Anyone want to help tackle this? Artsygeek 18:32, 24 January 2007 (UTC)

One point on linking to groups: linking to fundraising pages of existing groups just clouds up the pages. Artsygeek (talk) 04:16, 24 November 2007 (UTC)

[edit] Hereditability

It is unnecessary to include a specific explanation of the inheritance pattern of an autosomal dominant trait in this article since the article's focus is on a particular disease rather than on inheritance patterns. A previous entry was reverted by a user asserting that the terms Autosomal Dominant (AD) and Penetrance were "Jargon". While I agree that penetrance would fall into this category (and agree with how it is presently handled in this article), AD is a term which is found in many wiki articles lacking a detailed explanation of its inheritance pattern. Moreover, the section about AD inheritance patterns, which was removed before the revert, appears twice in the article, once in the first section and again in the section on hereditability and genetics. Since NF displays variable penetrance, it is helpful to explain the disconnect between genotype and phenotype but detailing the % chance of passing along the gene is not warranted.

Users searching for neurofibramatosis who do not understand AD inheritance could find the necessary information by following the link to autosomal dominant.

I strongly recommend that the discussion of the chances of passing the allele to offspring be removed and replaced by a simply stated sentence indicating that the allele follows AD inheritance pattern. Dr. Doof (talk) 18:56, 2 June 2008 (UTC)

Have you read WP:JARGON and WP:MEDMOS? Anyway, WP:LEAD says:
In general, specialized terminology should be avoided in an introduction. Where uncommon terms are essential to describing the subject, they should be placed in context, briefly defined, and linked.
I would agree that explaining dominance twice is not useful, although a more complete explanation is suitable for the body of an article. It is not wrong the repeat certain things in the body of an article.
--Steven Fruitsmaak (Reply) 21:17, 2 June 2008 (UTC)

I would argue that, especially in the lead section of this entry, a detailed discussion of heritability is unwarranted for two reasons. First, the purpose of the lead section is to introduce the subject and provide a short summary of the important aspects of the article. Explaining which child will inherit the gene goes beyond summarizing the important aspects of the article and borders on off topic WP:TOPIC. According to WP:MEDMOS:

When mentioning technical terms (jargon) for the first time, provide a short plain-English explanation in parentheses if possible. If the concept is too elaborate for this, wikilink to other articles (or Wiktionary entries).

Secondly, mentioning that a disorder is autosomal dominant, wikilinking it and providing an image describing AD inheritance is how the mention AD inheritance is handled in virtually every other wikipedia article on diseases with autosomal dominant inheritance.

Essentially, the mention of autosomal dominance and penetrance should be handled similarly in the introduction. Both should be mentioned with a concise explanation of their meaning and a wikilink provided to the relevant article. A brief discussion of heritability should be included in the article but spelling out which child born to a patient with NF, will inherit the disease is unnecessary. Dr. Doof (talk) 17:28, 3 June 2008 (UTC)