Endocrine Abstracts

Cowden’s syndrome (CS), also called multiple hamartoma syndrome is an orphan pathology which associates pathognomonic cutaneous-mucosal manifestations with multiple and disseminated hamartomas (skin, mucous membranes, gastrointestinal tract, thyroid, breasts and genitourinary system) and an increased risk of the development of certain malignant tumors, in particular breast, thyroid and endometrial tumors, which are very serious.

Observation

Case 1

A 41-year-old woman followed from a young age in dermatology for skin lesions associated with macrocephaly. She also has a history of multinodular goiter operated on 4 times, the micro-invasive follicular carcinoma is diagnosed, it was extended to the 3rd and 4th tracheal rings and cervical lymph node. The treatment is completed by two iratherapy (cumulative activity: 448 mCi). The diagnosis of Cowden syndrome is confirmed and other explorations are made, they have resulted in the discovery of 3 gastric polyps of 6 to 8 mm, multiple colonic polyps of 10 mm, and more recently, left breast cancer currently undergoing chemotherapy.

Case 2

A 20-year-old women with a history of a 20 mm granulosis tumor of the right ovary, operated on at the age of 14. A left nodular goiter is discovered accidentally, a thyroidectomy is performed and the diagnosis of trabeculo-follicular carcinoma is made. The treatment is completed by iratherapy (105 mCi). During follow-up, a bilateral breast biopsy is performed. The histological study confirms benign adenofibroma. The association of ovarian tumor, thyroid carcinoma, adenofibromas of the breasts with skin lesions such as papillomatous papules of the nose, of the neck, of the gums and nasal mucosa suggests the diagnosis of Cowden syndrome. The digestive tract could not be explored because the patient’s refusal, the ultrasounds made during the follow-up did not find any lesion of the urinary or the genital system.

Discussion

CS is a tumor predisposition syndrome related to a mutation in the tumor suppressor gene PTEN located on the long arm of chromosome 10 (10q 22–23) whose loss of function leads to activation of the PI3K/Akt/pathway. mTOR involved in cell growth, migration and proliferation. The hamartomatous lesions characteristic of CS concern organs from 3 embryological outlines: ectoderm, mesoderm and endoderm, its diagnosis is purely clinical based on the association of major and minor criteria established by the international Cowden consortium. a rare but potentially serious pathology due to the frequency and aggressiveness of the malignant neoplastic lesions characterizing it, requiring multidisciplinary management is close monitoring.