The facial papules of CS respond variably to 5-fluorouracil, oral retinoids, curettage, laser ablation, cryosurgery, dermabrasion, or surgical excision, but the effects are temporary and often unsatisfactory. Thyroid function studies, thyroid scanning and/or ultrasound,
TABLE 1 International Cowden Syndrome Consortium Operational Criteria, 2000
Mental retardation Gastrointestinal disorder Hamartomata Other thyroid lesions Fibrocystic breast disease
Facial trichilemmomata Breast carcinoma
Acral keratoses Nonmedullary thyroid cancer
Papillomatous papules Macrocephaly
Mucosal lesions Lhermitte-Duclos disease
- Endometrial carcinoma
Diagnosis in an individual can be established by any of the following:
1. Mucocutaneous lesions alone:
Six or more facial papules, of which three or more must be trichilemmomas, or Cutaneous facial papules and oral mucosal papillomatosis, or Oral mucosal papillomatosis and acral keratoses, or Six or more palmoplantar keratoses
2. Two major criteria but one must include macrocephaly or Lhermitte-Duclos disease
3. One major and three minor criteria
4. Four minor criteria
Diagnosis for a patient with a family history of Cowden syndrome can be established by:
1. Any pathognomonic criterion
3. Two minor criteria complete blood count, urinalysis, mammography, chest radiography, pap smear, and uterine ultrasound should be performed as baseline studies in all patients and followed up periodically as indicated.
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