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Literature DB >> 26975628

Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome.

Abstract

PTEN hamartoma tumor syndrome refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Cowden syndrome, the principal PTEN-related disorder is characterized by multiple neoplasms and hamartomas, mucosal papillomatosis, and skin lesions, trichilemmomas. Trichilemmomas and mucocutaneous papillomatous papules are one of the first signs of the disease. Early recognition of these skin lesions may help on diagnosing an underlying malignancy and early cancer screening.

Entities: Disease Gene

Keywords: Adult Lhermitte–Duclos disease; Cowden syndrome (CS); Hamartomas; Mucosal papillomatosis; Multiple neoplasms; PTEN hamartoma tumor syndrome (PHTS); Phosphatase and tensin homolog (PTEN) gene; Thyroid adenomatous nodules; Thyroid carcinoma; Trichilemmomas

Mesh：

Substances：

Year: 2016 PMID： 26975628 PMCID： PMC4838969 DOI： 10.1007/s12105-016-0708-7

Source DB: PubMed Journal: Head Neck Pathol ISSN： 1936-055X

23 in total

Review 1. Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature.

Authors: Mark A Scheper; Nikolaos G Nikitakis; Eleni Sarlani; John J Sauk; Timothy F Meiller
Journal: Oral Surg Oral Med Oral Pathol Oral Radiol Endod Date: 2006-01-10

Review 2. Hereditary gastrointestinal polyposis syndromes.

Authors: R C Haggitt; B J Reid
Journal: Am J Surg Pathol Date: 1986-12 Impact factor: 6.394

3. The cutaneous pathology of facial lesions in Cowden's disease.

Authors: T M Starink; R Hausman
Journal: J Cutan Pathol Date: 1984-10 Impact factor: 1.587

Review 4. Cancer-associated genodermatoses: skin neoplasms as clues to hereditary tumor syndromes.

Authors: Giovanni Ponti; Giovanni Pellacani; Stefania Seidenari; Annamaria Pollio; Umberto Muscatello; Aldo Tomasi
Journal: Crit Rev Oncol Hematol Date: 2012-07-21 Impact factor: 6.312

Review 5. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Authors: L G Biesecker; R Happle; J B Mulliken; R Weksberg; J M Graham; D L Viljoen; M M Cohen
Journal: Am J Med Genet Date: 1999-06-11

6. Localization of the gene for Cowden disease to chromosome 10q22-23.

Authors: M R Nelen; G W Padberg; E A Peeters; A Y Lin; B van den Helm; R R Frants; V Coulon; A M Goldstein; M M van Reen; D F Easton; R A Eeles; S Hodgsen; J J Mulvihill; V A Murday; M A Tucker; E C Mariman; T M Starink; B A Ponder; H H Ropers; H Kremer; M Longy; C Eng
Journal: Nat Genet Date: 1996-05 Impact factor: 38.330

Review 7. Mutations of the human PTEN gene.

Authors: D Bonneau; M Longy
Journal: Hum Mutat Date: 2000 Impact factor: 4.878

8. Phosphatase and tensin homolog immunohistochemical staining and clinical criteria for Cowden syndrome in patients with trichilemmoma or associated lesions.

Authors: Ming Jin; Heather Hampel; Robert Pilarski; Xiaoping Zhou; Sara Peters; Wendy L Frankel
Journal: Am J Dermatopathol Date: 2013-08 Impact factor: 1.533

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

Review 10. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

Authors: Robert Pilarski; Randall Burt; Wendy Kohlman; Lana Pho; Kristen M Shannon; Elizabeth Swisher
Journal: J Natl Cancer Inst Date: 2013-10-17 Impact factor: 13.506

5 in total

Review 1. Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.

Authors: Vania Nosé; Anthony Gill; José Manuel Cameselle Teijeiro; Aurel Perren; Lori Erickson
Journal: Endocr Pathol Date: 2022-03-13 Impact factor: 3.943

Review 2. Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Authors: Vania Nosé; Alexander J Lazar
Journal: Head Neck Pathol Date: 2022-03-21