Rare Diseases Symptoms Automatic Extraction

Management of reproductive health in Cowden syndrome complicated by endometrial polyps and breast cancer.

[cowden syndrome]

Cowden syndrome is an autosomal-dominant condition associated with mutations in the tumor suppressor gene PTEN. Gynecologic malignancies are common with a 5-10% risk of endometrial cancer and 25-50% risk of breast cancer.A 37-year-old woman with a history of breast cancer, other neoplasms, and multiple skin lesions was diagnosed with Cowden syndrome after a germline PTEN mutation was identified. The endometrium had high glucose uptake on positron emission tomography scan and was irregularly thickened on ultrasonography; biopsy revealed endometrial polyps and simple hyperplasia. Fifteen months later, hysteroscopy again confirmed numerous benign endometrial polyps.Recurrent, multiple endometrial polyps portend a high risk of endometrial cancer in women with Cowden syndrome. Monitoring for malignancy and consideration of hysterectomy after childbearing is completed is warranted.

Diseases presenting "skin lesions" symptom

  • child syndrome
  • cowden syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • familial mediterranean fever
  • focal myositis
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • junctional epidermolysis bullosa
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • oligodontia
  • omenn syndrome
  • papillon-lefèvre syndrome
  • primary effusion lymphoma
  • proteus syndrome
  • severe combined immunodeficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome

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