Literature DB >> 7760320

Cowden syndrome.

A M Hanssen1, J P Fryns.   

Abstract

Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in young children. Other mucocutaneous symptoms, for example, trichilemmomas in the nasolabial folds and palmar and plantar hyperkeratotic pits, usually become evident later in childhood. They are often accompanied by the appearance of subcutaneous lipomas and cutaneous haemangiomas.

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Mesh:

Year:  1995        PMID: 7760320      PMCID: PMC1050232          DOI: 10.1136/jmg.32.2.117

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  9 in total

1.  Cowden's disease. A possible new symptom complex with multiple system involvement.

Authors:  K M LLOYD; M DENNIS
Journal:  Ann Intern Med       Date:  1963-01       Impact factor: 25.391

2.  Disseminated hereditary gastrointestinal polyposis with orocutaneous hamartomatosis (Cowden's disease).

Authors:  M Gorensek; I Matko; A Skralovnik; M Rode; J Satler; A Jutersek
Journal:  Endoscopy       Date:  1984-03       Impact factor: 10.093

3.  Cowden's disease: familial goiter and skin hamartomas. A report of three cases.

Authors:  P B Sogol; M Sugawara; H E Gordon; W V Shellow; F Hernandez; J M Hershman
Journal:  West J Med       Date:  1983-09

4.  Multiple hamartoma syndrome (Cowden disease).

Authors:  W C Gentry; N R Eskritt; R J Gorlin
Journal:  Arch Dermatol       Date:  1974-04

5.  Lhermitte-Duclos disease and Cowden disease: a single phakomatosis.

Authors:  G W Padberg; J D Schot; G J Vielvoye; G T Bots; F C de Beer
Journal:  Ann Neurol       Date:  1991-05       Impact factor: 10.422

6.  Multiple hamartoma syndrome (Cowden's disease).

Authors:  P E Weary; R J Gorlin; W C Gentry; J E Comer; K E Greer
Journal:  Arch Dermatol       Date:  1972-11

7.  Cowden disease: gene marker studies and measurements of epidermal growth factor.

Authors:  H E Carlson; T W Burns; S L Davenport; A M Luger; M A Spence; R S Sparkes; D N Orth
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

Review 8.  Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.

Authors:  A M Hanssen; H Werquin; E Suys; J P Fryns
Journal:  Clin Genet       Date:  1993-12       Impact factor: 4.438

9.  The Cowden syndrome: a clinical and genetic study in 21 patients.

Authors:  T M Starink; J P van der Veen; F Arwert; L P de Waal; G G de Lange; J J Gille; A W Eriksson
Journal:  Clin Genet       Date:  1986-03       Impact factor: 4.438

  9 in total
  32 in total

1.  Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome.

Authors:  A M Raizis; M M Ferguson; B A Robinson; C H Atkinson; P M George
Journal:  Mol Pathol       Date:  1998-12

2.  PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.

Authors:  Kyle C Kurek; Emily Howard; L B Tennant; Joseph Upton; Ahmad I Alomari; Patricia E Burrows; Kim Chalache; David J Harris; Cameron C Trenor; Charis Eng; Steven J Fishman; John B Mulliken; Antonio R Perez-Atayde; Harry P W Kozakewich
Journal:  Am J Surg Pathol       Date:  2012-05       Impact factor: 6.394

3.  Proliferative retinopathy in Cowden syndrome.

Authors:  Qasim Mansoor; David H W Steel
Journal:  BMJ Case Rep       Date:  2012-03-08

Review 4.  Ras and Rap signaling in synaptic plasticity and mental disorders.

Authors:  Ruth L Stornetta; J Julius Zhu
Journal:  Neuroscientist       Date:  2010-04-29       Impact factor: 7.519

Review 5.  Hamartomatous polyposis syndromes.

Authors:  Daniel Calva; James R Howe
Journal:  Surg Clin North Am       Date:  2008-08       Impact factor: 2.741

Review 6.  Colorectal cancer risk in hamartomatous polyposis syndromes.

Authors:  Fábio Guilherme Campos; Marleny Novaes Figueiredo; Carlos Augusto Real Martinez
Journal:  World J Gastrointest Surg       Date:  2015-03-27

7.  Cowden Syndrome.

Authors:  C Eng
Journal:  J Genet Couns       Date:  1997-06       Impact factor: 2.537

8.  Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

Authors:  J D Fackenthal; D J Marsh; A L Richardson; S A Cummings; C Eng; B G Robinson; O I Olopade
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

9.  Hereditary breast and ovarian cancer.

Authors:  Jacek Gronwald; Tomasz Byrski; Tomasz Huzarski; Oleg Oszurek; Anna Janicka; Jolanta Szymanska-Pasternak; Bohdan Górski; Janusz Menkiszak; Izabella Rzepka-Górska; Jan Lubinski
Journal:  Hered Cancer Clin Pract       Date:  2008-06-15       Impact factor: 2.857

10.  Germline PTEN mutations are rare and highly penetrant.

Authors:  Cecilie F Rustad; Merete Bjørnslett; Ketil R Heimdal; Lovise Mæhle; Jaran Apold; Pål Møller
Journal:  Hered Cancer Clin Pract       Date:  2006-12-15       Impact factor: 2.857

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