Cowden syndrome epidemiology and demographics
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Epidemiology and Demographics
Incidence
- The incidence of cowden syndrome is approximately 1 per 200,000 to 250,000 individuals worldwide.[1][2]
- Before the PTEN gene mutation identification the incidence of cowden syndrome is approximately 1 per 1,000,000 individuals worldwide.[3]
Prevalence
- The prevalence of cowden syndrome is unknown.[4]
- The prevalence of breast cancer in cowden syndrome increases by 3 fold.[5]
- The prevalence of renal cell carcinomas in cowden syndrome increases by 2 fold.
Case-fatality rate/Mortality rate
- In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate/mortality rate of [number range]%.
- The case-fatality rate/mortality rate of [disease name] is approximately [number range].
Age
- Patients of all age groups may develop [disease name].
- The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
- [Disease name] commonly affects individuals younger than/older than [number of years] years of age.
- [Chronic disease name] is usually first diagnosed among [age group].
- [Acute disease name] commonly affects [age group].
Race
- There is racial predilection to cowden syndrome.
- Cowden syndrome usually affects individuals of the caucasians race more than other races.
- [Race 2] individuals are less likely to develop [disease name].
Gender
- Cowden syndrome affects men and women equally.[6]
- Females are little more commonly affected by cowden syndrome than males.[7]
Region
- The majority of [disease name] cases are reported in [geographical region].
- [Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
Developed Countries
Developing Countries
References
- ↑ Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW (April 1999). "Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations". Eur. J. Hum. Genet. 7 (3): 267–73. doi:10.1038/sj.ejhg.5200289. PMID 10234502.
- ↑ Eng, C. (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". Journal of Medical Genetics. 37 (11): 828–830. doi:10.1136/jmg.37.11.828. ISSN 1468-6244.
- ↑ Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
- ↑ Bennett, Kristi L. (2010). "Germline Epigenetic Regulation of <emph type="ital">KILLIN</emph> in Cowden and Cowden-like Syndrome". JAMA. 304 (24): 2724. doi:10.1001/jama.2010.1877. ISSN 0098-7484.
- ↑ Varga, Elizabeth A; Pastore, Matthew; Prior, Thomas; Herman, Gail E; McBride, Kim L (2009). "The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly". Genetics in Medicine. 11 (2): 111–117. doi:10.1097/GIM.0b013e31818fd762. ISSN 1098-3600.
- ↑ Guimarães, Patrícia de Barros; Branco, Adeíza de Alencar; Carvalho, Elaine; Lima, Francisco Eduardo; Almeida, José Roberto; Santos, Josemir Belo dos; Villa, Luisa; Rodrigues, Sílvia Helena; Siqueira, Roberta; De Perreli, Tatiana (2002). "Síndrome de Cowden: relato de um caso". Anais Brasileiros de Dermatologia. 77 (6): 711–720. doi:10.1590/S0365-05962002000600009. ISSN 0365-0596.
- ↑ Lee, H R; Moon, Y S; Yeom, C H; Kim, K W; Chun, J Y; Kim, H K; Choi, H S; Kim, D K; Chung, T S (1997). "Cowden's disease--a report on the first case in Korea and literature review". Journal of Korean Medical Science. 12 (6): 570. doi:10.3346/jkms.1997.12.6.570. ISSN 1011-8934.