Rare Diseases Symptoms Automatic Extraction

Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome.

[cowden syndrome]

Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any) hereditary disease.

Diseases presenting "breast cancer" symptom

  • acute rheumatic fever
  • aromatase deficiency
  • carcinoma of the gallbladder
  • child syndrome
  • cowden syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • esophageal squamous cell carcinoma
  • junctional epidermolysis bullosa
  • kindler syndrome
  • liposarcoma
  • lymphangioleiomyomatosis
  • oral submucous fibrosis
  • proteus syndrome
  • severe combined immunodeficiency
  • systemic capillary leak syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome

This symptom has already been validated