Endocrine Abstracts

Cowden syndrome is an autosomal dominant disorder characterized by germline mutations in the PTEN tumour suppressor gene on 10q23.3 which mediates cell-cycle arrest and apoptosis. The diagnosis is primarily based on clinical findings including a combination of mucocutaneous lesions (trichilemmomas), macrocephaly, thyroid lesions (mainly follicular adenoma or carcinoma) and breast and endometrial cancer. The prevalence is estimated at 1/200 000. Lifetime risk for developing breast cancer is 50%; thyroid adenomas become malignant in 10%. Classical PTEN mutations can be identified in 80% of individuals who meet the diagnostic criteria.

We discuss two recently diagnosed non-related cases.

1) 35-year-old woman who presented to the dermatologist with multiple papillomatous nodules and hyperkeratotic papules at forehead and cheeks. A skin biopsy confirmed trichilemmonas, a pathognomonic criterion for Cowden’s disease. She was referred with a small nodular goitre. Clinical examination revealed macrocephaly and galactorrhea. Her breast examination and mammogram were negative. She was clinically and biochemical euthyroid. Her thyroid ultrasound showed multiple 11-16 mm nodules in both lobes.

2) 56-year-old woman who attends our clinic with long standing hypothyroidism. She has a strong family history for both ovarian and breast carcinoma. Clinical examination showed multiple bilateral breast lumps, galactorrhea, macrocephaly, obesity. She previously underwent hysterectomy and bilateral oophorectomy which revealed ovarian cystadenoma and myometrial leiomyoma. Mammography showed bilateral fibro-adenomata. Both women are enrolled in regular breast and thyroid screening programs.

Conclusion: We currently investigate three further possible cases of Cowden’s syndrome. This may suggest that the prevalence is underreported and patients with nodular thyroid disease should be assessed for a family history for breast, thyroid or endometrial cancer. There are no nationally agreed guidelines in the UK with regard to management and surveillance strategies for Cowden’s syndrome. We will outline international recommendations.