Cowden Disease (Multiple Hamartoma Syndrome) Medication

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

Medication Summary

Systemic therapy with retinoids may temporarily control some of the cutaneous lesions of Cowden disease (multiple hamartoma syndrome). Topical treatment usually is unsatisfactory.

Rapamycin has shown great promise in both regression of cutaneous lesions and prevention of the development of manifestations of Cowden disease (multiple hamartoma syndrome) in a mouse model with a PTEN deletion. In the mouse model, rapamycin inhibited a key downstream target, mammalian target of rapamycin (mTOR), which caused rapid regression of Cowden disease (multiple hamartoma syndrome)–like lesions.[24] At this time, however, use of rapamycin, should be limited to clinical trials. A clinical trial is currently underway that is studying the effects of rapamycin on syndromes with PTEN mutations.

Also see the following clinical trials:

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Retinoids

Class Summary

These agents are partially effective in treating cutaneous lesions.

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Acitretin (Soriatane)

 

Retinoic acid analog similar to etretinate and isotretinoin. Acitretin is the main metabolite of etretinate and has demonstrated clinical effects close to those seen with etretinate. Mechanism of action is suspected to be through its ability to cause increased differentiation of cells.

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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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  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].

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  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].

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  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].

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  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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A patient with trichilemmoma papules on the face.
Multiple benign oral fibromas.
Multiple trichilemmomas in patient with Cowden disease.
 
 
 
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