Cowden syndrome physical examination: Difference between revisions

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Latest revision as of 14:49, 26 March 2019

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

Patients with cowden syndrome usually appear normal.

Vital Signs

Vital signs are normal in patients with cowden syndrome.

Skin

**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- Case courtesy Prashanthi Chippagiri^[2]

**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 -** 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** - By Sikander Iqbal - Own work, CC BY 3.0, https://commons.wikimedia.org/w/index.php?curid=3260139

**Epidermal nevi in Cowden syndrome**- ^[5]

Skin examination of patients with cowden syndrome is very important and helps in the diagnosis
- Trichilemmomas:
  - Trichilemmomas are solitary sporadic lesion which arise from the outer root sheath of the hair follicle.^[6]^[7]^[8]
  - Trichilemmomas are most commonly occurs in face and neck areas of the body parts.
  - Trichilemmomas are hallmark clinical sign of cowd en syndrome patients.
  - On gross examination trichilemmomas are wart-like and skin-colored papules.
  - On histology examination trichilemmomas are contain large glycogen-rich cells.
  - Biopsy of the trichilemmomas helps in the diagnos is of the cowden syndrome .

Acral keratoses:
- Acral keratoses are verrucous papules and most commonly present in dorsal hands, wrists, or feet.^[9]^[10]
- On soles and palms patients with cowden syndrome may develop translucent punctate keratoses.^[11]
Facial papules
- In cowden syndrome patients facial papules are most common lesions and found in almost 86 percent of patients.^[12]
- The most common locations of facial papules are located in periorificial regions and nostrils.
Oral papules and papillomas
- The location of oral papules and papillomas are most commonly in lips and buccal mucous membranes which are pink in colour and 1 to 4 mm in diameter size.^[13]^[14]
- When the papules coalesce they form as cobblestone appearance.
Palmar keratosis
- In patients with cowden syndrome palmar keratosis presents as shiny with central dells.
Lipomas
Epidermal nevi

Lungs

Pulmonary examination of patients with cowden syndrome is usually normal.

Heart

Cardiovascular examination of patients with cowden syndrome is usually normal.

Abdomen

Abdominal examination of patients with cowden syndrome is usually normal.

Genitourinary

Genitourinary examination of patients with cowden syndrome in women shows uterine fibroids.^[15]
Genitourinary examination of patients with cowden syndrome in men shows multiple bilateral hyperechoic testicular lesions which are gonna confirmed by ultrasound.^[16]^[17]^[18]

Neuromuscular

Macrocephaly ^[19]
- Occipital-frontal head circumference greater than the 97th percentile.
Dolichocephaly
Lhermitte-Duclos disease^[20]

Extremities

Extremities examination of patients with cowden syndrome is usually normal.

References

↑ "A rare clinical presentation of Desmoplastic Trichilemmoma mimicking Invasive Carcinoma".
↑ "Multiple papules may also be noticed on the lower labial mucosa in Cowden syndrome".
↑ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787619/. Missing or empty |title= (help)
↑ "Multiple Hamartoma Syndrome with Characteristic Oral and Cutaneous Manifestations".
↑ "Epidermal nevi in Cowden syndrome".
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.

Template:WH Template:WS

[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] ttps://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".

[pmid22486434-6] 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.

[pmid4653142-7] 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.

[pmid26734858-8] 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.

[pmid21886759-9] 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.

[pmid3698331-10] 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.

[pmid218867592-11] 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.

[pmid36983312-12] 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.

[pmid218867593-13] 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.

[pmid465314-14] 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.

[pmid-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.

[pmid16980675-16] 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.

[pmid15920539-17] 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.

[pmid21943449-18] 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.

[pmid17920899-19] 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.

[pmid25022750-20] 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.

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 ===Extremities===
 * [[Extremities]] examination of patients with [[cowden syndrome]] is usually normal.
+<br style="clear:right" />
 ==References==
 {{Reflist|2}}