Talk:Tuberous sclerosis

Hard potatoes?
Tuberous sclerosis doesn't really mean 'hard potatoes'. It actually derives from the latin tuber meaning swelling and the greek skleros meaning hard. (Due to the hard swellings which are characteristic of the disease). Potatoes are tubers because they are swellings of the roots of the plant. Should I change this? --Losgann 15:02, 29 April 2006 (UTC)
 * Yes, be bold. According to NINDS,


 * The name tuberous sclerosis comes from the characteristic tuber or root-like growths in the brain, which calcify with age and become hard or sclerotic.


 * Colin°Talk 16:31, 29 April 2006 (UTC)

Adenoma sebaceum
The intro says: ...skin lesions (called facial angiofibroma or adenoma sebaceum). The section on Outdated Terms says: ''Adenoma sebaceum. This misnomer is sometimes used to refer to TSC.'' - if they should not be called adenoma sebaceum then they should not be in the intro as 'called'. --apers0n 22:29, 31 July 2006 (UTC)

Fixed. Colin°Talk 07:40, 1 August 2006 (UTC)

NEJM review
This was reviewed in this week's NEJM here. Maybe some additions possible. JFW | T@lk  23:19, 30 September 2006 (UTC)
 * Thanks. It is good to have an up-to-date review of current knowledge. This article is still very much a work-in-progress. Colin°Talk 21:30, 5 October 2006 (UTC)

Online sources
The following are online resources of up-to-date info on TS that would be useful to editors working on this article:


 * References listed in Timeline of tuberous sclerosis.
 * Tuberous Sclerosis Complex: Future Research Directions 2004. Many articles and conference notes from experts covering the whole disease. Big PDF.
 * Tuberous sclerosis Complex: Mutations, Functions and Phenotypes, 2005, Özgür Sancak. ISBN: 9090201939. Available online if you Google. —The preceding unsigned comment was added by Colin (talk • contribs) 15:23, 13 January 2007 (UTC).

Retinal changes - photography needed
I'm looking for fundoscopic exam of patient with TSC for polish version of this article. Does anyone could help? Filip kocha małgosię 16:56, 26 May 2007 (UTC)

Epidemiology
I looked at Epidemiology and have the following comments:


 * I couldn't find any prevalence figures more recent than O'Callaghan et al.
 * I found many recent papers saying that the prevalence at birth is in the range 1:6000 to 1:10,000; some that said flatly 1:6000, and some 1:5800. From the references in the papers I found, I suspect the numbers may partly come from the following reference: . However, that reference is not in my library. Maybe the same numbers are also in Curatolo (2003)?
 * I prefer the phrase "live-birth prevalence" to "incidence per live birth", partly to avoid the confusion about the two kinds of incidence. This is a relatively minor point, though.
 * I could not find any backup for the long list of prevalence figures in the text ("1:150,000 in 1956, to 1:100,000 in 1968, to 1:70,000 in 1971, to 1:34,200 in 1984, to the present figure of 1:12,500 in 1998"). I assume these figures came from Curatolo (2003), but I don't have easy access to that.

Eubulides 08:26, 28 May 2007 (UTC)

Many thanks for checking and investigating. It is a shame there's nothing more recent. From p23 of Curatolo(2003), "Diagnosic Criteria", I get:
 * The rate of occurrence of tuberous sclerosis at birth is unknown...(paragraph continues with stats trying to come up with a figure)... This indicates that the real incidence at birth may be as high as 1:6000 (Webb et al. 1993, Cardiac rhabdomyomas and their association with tuberous sclerosis, Arch Dis Child 68:367–70)

Earlier, when talking about Hunt and Lindenbaum's 1984 study, he says "The scientists believed that the birth prevalence might be even higher than it is now considered to be." I don't have that paper so don't have more details.

An editorial by Fryer (Journal of the Royal Society of Medicine 1991, 84:699) says "... suggesting a birth incidence of 1:10000". I don't have the Osborne paper you mention. I've seen 1:5800 mentioned but don't know its source at present.

My sources seem to use incidence and prevalence interchangeably wrt to birth. I'm happy to change it if you think it may be less ambiguous.

The list of prevalence figures throughout the years comes from Curatolo (2003), Table 2.6, page 22. This in turn is based on an earlier table by Shepherd in his short chapter "The Epidemiology of Tuberous Sclerosis Complex" in the book Gomez 1999. The earlier table doesn't have the O'Callaghan figure.

I'll see if I can get hold of some of the other papers, but it isn't easy. Colin°Talk 10:39, 28 May 2007 (UTC)


 * Yes, with rare diseases prevalence and incidence numbers are harder to find solid sources for. Curatolo should count as a good source, though. I don't have Curatolo, but one thing that would help later readers of this page is to have page numbers for each individual citation to Curatolo. I realize that is more work for you, though. Eubulides 04:18, 29 May 2007 (UTC)


 * I just now checked with a Google web search, and "live-birth prevalence" had 525 hits but "incidence per live birth" had only 8 (and "incidence rate per live birth" only 2), so it's pretty clear that "live-birth prevalence" is the more common term on the web, so I switched the page to use that. Technically it's more correct anyway, as TSC is present before birth. Eubulides 04:18, 29 May 2007 (UTC)

Tuberous sclerosis or Tuberous sclerosis complex
The name "Tuberous sclerosis of the cerebral convolutions" was proposed by Bourneville in 1880 when he described the pathology in the brain of a child. The longer name, tuberous sclerosis complex, was first proposed by the pathologist Moolten 1942. This was to emphasis the large variety of organ involvement, not just the brain. In the preface to the 3rd edition of Gomez 1999 (the authority, until his death) he writes


 * For lack of a better name, we favor "the tuberous sclerosis complex," as Moolten called this disease half a century ago. Our purpose is to avoid a well-entrenched ambiguity in medical nomenclature. The name "tuberous sclerosis" (without the word "complex") should refer to only the cerebral pathology of a pervasive disease. The finding of "tuberous sclerosis" (of the cerebral convolutions) is present in almost all patients and nearly exclusively to patients with TSC. The name "tuberous sclerosis complex" identifies a heritable disorder manifested by multiple hamartomatous lesions in one or several organs.

As with many names, people shorten it when speaking and writing informally. Many support organisations use the shortened form in their name (it is long enough!) They do use the full name when writing about the medical condition in detail. The proper name is "tuberous sclerosis complex" which also explains the acronym TSC. I propose for consideration that the article is moved to tuberous sclerosis complex, with appropriate redirects of course. Colin°Talk 11:03, 28 May 2007 (UTC)


 * If popularity matters, I did a Google web search and found about 676,000 instances of "tuberous sclerosis" but only 157,000 of "tuberous sclerosis complex". One must subtract the latter number from the former (because the former is a substring of the latter) but this still indicates a 3.3:1 ratio in favor of the shorter name. If one restricts one's attention to scholarly works dated 2002 or later with the phrase in the title, Google Scholar reports 7,110 "tuberous sclerosis" hits versus 2,320 "tuberous sclerosis complex" hits, for a 2.1:1 ratio. It appears to me that the world is slowly changing to "tuberous sclerosis complex" but we're not there yet. Eubulides 04:18, 29 May 2007 (UTC)


 * Perhaps Gomez's point about TSC's name belongs in the article somewhere? Perhaps in the "History" section? Eubulides 04:18, 29 May 2007 (UTC)

Lancet review
Reviewed in the Lancet recently: JFW |  T@lk  20:15, 27 August 2008 (UTC)


 * There's also a recent review of management issues in Paediatric Drugs by Krueger & Franz 2008 . Eubulides (talk) 01:56, 1 September 2008 (UTC)


 * Thanks, guys. I'll look them up. Colin°Talk 10:09, 1 September 2008 (UTC)

Orlova & Crino review
There's a new review of TSC out that looks worth reading:

Eubulides (talk) 06:09, 14 February 2010 (UTC)
 * Thanks. I'll try to get hold of it. I have currently mislaid my two textbooks (Gomez 1999 and Curatolo 2003) which is discouraging me from making much of a start on this article. I'm slowly turning my house upside down in search of them. They are getting a little dated now. There's a new book (ISBN 3527322019) out on 21 April (according to Wiley and Amazon UK... the Amazon US site says 21 June). At £80, it is painfully expensive. Colin°Talk 08:51, 14 February 2010 (UTC)

Why does "epiloia" redirect here?
Not mentioned or defined in article. 109.157.79.50 (talk) 22:49, 19 January 2015 (UTC)

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