Cowden Disease (Multiple Hamartoma Syndrome) Differential Diagnoses

  • Author: Kendall Adkisson, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Apr 26, 2010
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Kendall Adkisson, MD  Resident Physician, Scott and White Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Katherine H Fiala, MD  Assistant Professor, Department of Dermatology, Scott and White Northside Clinic

Katherine H Fiala, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, and Christian Medical & Dental Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Craig A Elmets, MD  Professor and Chair, Department of Dermatology, Director, UAB Skin Diseases Research Center, University of Alabama at Birmingham School of Medicine

Craig A Elmets, MD is a member of the following medical societies: American Academy of Dermatology, American Association of Immunologists, American College of Physicians, American Federation for Medical Research, and Society for Investigative Dermatology

Disclosure: Palomar Medical Technologies Stock None; Amgen Consulting fee Review panel membership; Astellas Consulting fee Review panel membership; Massachusetts Medical Society Salary Employment; Abbott Laboratories Grant/research funds Independent contractor

Richard P Vinson, MD  Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Lester F Libow, MD  Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Texas Medical Association

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

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  2. Lloyd KM II, Dennis M. Cowden's disease. A possible new symptoms complex with multiple system involvement. Ann Intern Med. 1963;58:136-142.

  3. Yin Y, Shen WH. PTEN: a new guardian of the genome. Oncogene. Sep 18 2008;27(41):5443-53. [Medline].

  4. Chen H and Fang J. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis. Aug 2009;24(8):865-74. [Medline].

  5. Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet. Nov 2008;16(11):1289-300. [Medline].

  6. Tok Celebi J, Chen FF, Zhang H, Ping XL, Tsou HC, Peacocke M. Identification of PTEN mutations in five families with Bannayan-Zonana syndrome. Exp Dermatol. Apr 1999;8(2):134-9. [Medline].

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  9. Requena L, Gutierrez J, Sanchez Yus E. Multiple sclerotic fibromas of the skin. A cutaneous marker of Cowden's disease. J Cutan Pathol. Aug 1992;19(4):346-51. [Medline].

  10. Fackenthal JD, Marsh DJ, Richardson AL, et al. Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet. Mar 2001;38(3):159-64. [Medline].

  11. Chen YM, Ott DJ, Wu WC, Gelfand DW. Cowden's disease: a case report and literature review. Gastrointest Radiol. 1987;12(4):325-9. [Medline].

  12. Nishizawa A, Satoh T, Watanabe R, et al. Cowden syndrome: a novel mutation and overlooked glycogenic acanthosis in gingiva. Br J Dermatol. May 2009;160(5):1116-8. [Medline].

  13. Schmeler KM, Daniels MS, Brandt AC, Lu KH. Endometrial cancer in an adolescent: a possible manifestation of Cowden syndrome. Obstet Gynecol. Aug 2009;114(2 Pt 2):477-9. [Medline].

  14. Woodhouse J, Ferguson MM. Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. Br J Radiol. Oct 2006;79(946):801-3. [Medline].

  15. Yen BC, Kahn H, Schiller AL, Klein MJ, Phelps RG, Lebwohl MG. Multiple hamartoma syndrome with osteosarcoma. Arch Pathol Lab Med. Dec 1993;117(12):1252-4. [Medline].

  16. Lok C, Viseux V, Avril MF, et al. Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine (Baltimore). Mar 2005;84(2):129-36. [Medline].

  17. Loffeld A, McLellan NJ, Cole T, Payne SJ, Fricker D, Moss C. Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. Br J Dermatol. Jun 2006;154(6):1194-8. [Medline].

  18. Van Calenbergh F, Vantomme N, Flamen P, et al. Lhermitte-Duclos disease: 11C-methionine positron emission tomography data in 4 patients. Surg Neurol. Mar 2006;65(3):293-6; discussion 296-7. [Medline].

  19. Bosserhoff AK, Grussendorf-Conen EI, Rubben A, et al. Multiple colon carcinomas in a patient with Cowden syndrome. Int J Mol Med. Oct 2006;18(4):643-7. [Medline].

  20. Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns. Feb 2009;18(1):13-27. [Medline].

  21. O'Hare AM, Cooper PH, Parlette HL 3rd. Trichilemmomal carcinoma in a patient with Cowden's disease (multiple hamartoma syndrome). J Am Acad Dermatol. Jun 1997;36(6 Pt 1):1021-3. [Medline].

  22. Cnudde F, Boulard F, Muller P, Chevallier J, Teron-Abou B. [Cowden disease: treatment with acitretine]. Ann Dermatol Venereol. 1996;123(11):739-41. [Medline].

  23. Walton BJ, Morain WD, Baughman RD, Jordan A, Crichlow RW. Cowden's disease: a further indication for prophylactic mastectomy. Surgery. Jan 1986;99(1):82-6. [Medline].

  24. Squarize CH, Castilho RM, Gutkind JS. Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycin. Cancer Res. Sep 1 2008;68(17):7066-72. [Medline].

  25. Diggelmann HR, Van Daele DJ, O'Dorisio TM, Hoffman HT. Insular thyroid carcinoma in a patient with Cowden syndrome. Laryngoscope. Mar 2010;120(3):454-7. [Medline].

 
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