For Cowden Syndrome Diagnostic Criteria we have a term and definition in Colon Cancer.

Cowden Syndrome Diagnostic Criteria (Colon Cancer)

According to the International Cowden Syndrome Consortium (2000), any of the following make the clinical diagnosis of Cowden syndrome:
* Any of these muco-cutaneous lesions:
o 6 or more facial papules, of which 3 or more must be trichilemmomata
o Cutaneous facial papules and oral mucosal papillomatosis
o Oral mucosal papillomatosis and acral keratoses
o Palmo-plantar keratoses, 6 or more
* Two major criteria BUT one must include macrocephaly or Lhermitte-Duclos disease
* One major and three minor criteria
* Four minor criteria
Pathognomonic Criteria: Major Criteria: Minor Criteria:
facial trichilemmomata breast carcinoma mental retardation
acral keratoses non-medullary thyroid cancer gastrointestinal hamartomata
papillomatous papules macrocephaly other thyroid lesions
mucosal lesions Lhermitte-Duclos disease fibrocystic breast disease
endometrial carcinoma lipomata
fibromata
genitourinary tumors or malformation
The criteria are relaxed in someone with a family history of Cowden syndrome:
* Any pathognomonic criterion OR
* Any major criterion OR
* Two minor criteria
Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000 Nov;37(11):828-30.
Pubmed record

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