Cowden syndrome physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

Common physical examination findings of cowden syndrome include trichilemmomas, acral keratoses, and facial papules. The presence of trichilemmomas on physical examination is highly suggestive of cowden syndrome.

Physical Examination

Appearance of the Patient

Vital Signs

Skin

Desmoplastic trichilemmoma
Desmoplastic trichilemmoma in cowden syndromeCase- Case courtesy Daniela Tiemi Sano Et Al[1]
Multiple papules may also be noticed on the lower labial mucosa in Cowden syndrome
Multiple papules may also be noticed on the lower labial mucosa in Cowden syndrome- Case courtesy Prashanthi Chippagiri[2]
Trichilemmoma in Cowden Syndrome
Trichilemmoma in Cowden Syndrome- Case courtesy Prashanthi Chippagiri et al[3].
Cobblestone appearance of multiple confluent papules on the tongue.
Cobblestone appearance - Cse courtesy Prashanthi Chippagiri[4]
Trichilemmomas
Trichilemmomas - By Madhero88 - http://www.dermnet.com/Cowden-Disease/picture/23110, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=9710350
Plantar keratosis in Cowden syndrome
Plantar keratosis in Cowden syndrome- Case courtesy Author Grendelkhan.
Lipoma in Cowden syndrome
Lipoma in Cowden syndrome - By Sikander Iqbal - Own work, CC BY 3.0, https://commons.wikimedia.org/w/index.php?curid=3260139
Epidermal nevi in Cowden syndrome
Epidermal nevi in Cowden syndrome- [5]

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Abdomen

Genitourinary

Neuromuscular

Extremities


References

  1. "A rare clinical presentation of Desmoplastic Trichilemmoma mimicking Invasive Carcinoma".
  2. "Multiple papules may also be noticed on the lower labial mucosa in Cowden syndrome".
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787619/. Missing or empty |title= (help)
  4. "Multiple Hamartoma Syndrome with Characteristic Oral and Cutaneous Manifestations".
  5. "Epidermal nevi in Cowden syndrome".
  6. Al-Zaid T, Ditelberg JS, Prieto VG, Lev D, Luthra R, Davies MA, Diwan AH, Wang WL, Lazar AJ (May 2012). "Trichilemmomas show loss of PTEN in Cowden syndrome but only rarely in sporadic tumors". J. Cutan. Pathol. 39 (5): 493–9. doi:10.1111/j.1600-0560.2012.01888.x. PMID 22486434.
  7. Brownstein MH, Mehregan AH, Bikowski JB, Lupulescu A, Patterson JC (June 1979). "The dermatopathology of Cowden's syndrome". Br. J. Dermatol. 100 (6): 667–73. PMID 465314.
  8. Tellechea O, Cardoso JC, Reis JP, Ramos L, Gameiro AR, Coutinho I, Baptista AP (2015). "Benign follicular tumors". An Bras Dermatol. 90 (6): 780–96, quiz 797–8. doi:10.1590/abd1806-4841.20154114. PMC 4689065. PMID 26734858.
  9. Masmoudi A, Chermi ZM, Marrekchi S, Raida BS, Boudaya S, Mseddi M, Jalel MT, Turki H (March 2011). "Cowden syndrome". J Dermatol Case Rep. 5 (1): 8–13. doi:10.3315/jdcr.2011.1063. PMC 3163352. PMID 21886759.
  10. Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW (March 1986). "The Cowden syndrome: a clinical and genetic study in 21 patients". Clin. Genet. 29 (3): 222–33. PMID 3698331.
  11. Masmoudi A, Chermi ZM, Marrekchi S, Raida BS, Boudaya S, Mseddi M, Jalel MT, Turki H (March 2011). "Cowden syndrome". J Dermatol Case Rep. 5 (1): 8–13. doi:10.3315/jdcr.2011.1063. PMC 3163352. PMID 21886759.
  12. Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW (March 1986). "The Cowden syndrome: a clinical and genetic study in 21 patients". Clin. Genet. 29 (3): 222–33. PMID 3698331.
  13. Masmoudi A, Chermi ZM, Marrekchi S, Raida BS, Boudaya S, Mseddi M, Jalel MT, Turki H (March 2011). "Cowden syndrome". J Dermatol Case Rep. 5 (1): 8–13. doi:10.3315/jdcr.2011.1063. PMC 3163352. PMID 21886759.
  14. Brownstein MH, Mehregan AH, Bikowski JB, Lupulescu A, Patterson JC (June 1979). "The dermatopathology of Cowden's syndrome". Br. J. Dermatol. 100 (6): 667–73. PMID 465314.
  15. Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (November 2013). "Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria". J. Natl. Cancer Inst. 105 (21): 1607–16. doi:10.1093/jnci/djt277.
  16. Woodhouse J, Ferguson MM (October 2006). "Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis". Br J Radiol. 79 (946): 801–3. doi:10.1259/bjr/50628431. PMID 16980675.
  17. Woodhouse JB, Delahunt B, English SF, Fraser HH, Ferguson MM (September 2005). "Testicular lipomatosis in Cowden's syndrome". Mod. Pathol. 18 (9): 1151–6. doi:10.1038/modpathol.3800448. PMID 15920539.
  18. Alnajjar HM, Sahai A, Keane A, Gordon S (July 2011). "Testicular pain as a presentation of Cowden syndrome". Ann R Coll Surg Engl. 93 (5): e51–2. doi:10.1308/147870811X582819. PMC 5827217. PMID 21943449.
  19. Gustafson S, Zbuk KM, Scacheri C, Eng C (October 2007). "Cowden syndrome". Semin. Oncol. 34 (5): 428–34. doi:10.1053/j.seminoncol.2007.07.009. PMID 17920899.
  20. Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB (July 2014). "Hamartomatous polyposis syndromes: a review". Orphanet J Rare Dis. 9: 101. doi:10.1186/1750-1172-9-101. PMC 4112971. PMID 25022750.