Cowden syndrome (CS): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Cowden syndrome (CS): clinical features. Trichilemmomas, Acral keratoses, Mucocutaneous neuromas, Oral papillomas. Fully referenced neurology checklist.
Major criteria: multiple mucocutaneous lesions
- Trichilemmomas
- Acral keratoses
- Mucocutaneous neuromas
- Oral papillomas
Major criteria: others
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Minor criteria: thyroid lesions
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Minor criteria: others
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Other features
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References
- Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013; 105:1607-1616.
- Nosé V. Genodermatosis affecting the skin and mucosa of the head and neck: clinicopathologic, genetic, and molecular aspect-PTEN-hamartoma tumor syndrome/Cowden syndrome. Head Neck Pathol 2016; 10:131-138.
- Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000; 37:828-830.
- Vasovcak P, Krepelova A, Puchmajerova A, et al. A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis. Eur J Gastroenterol Hepatol 2007; 19:513-517.
- Kieselova K, Santiago F, Henrique M, Cunha MF. Multiple sclerotic fibromas of the skin: an important clue for the diagnosis of Cowden syndrome. BMJ Case Rep 2017; pii: bcr-2017-221695.
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