Hereditary inflammatory breast cancer associated with BRCA2 mutation: a rare disease presentation in mother and daughter.

A 40-year-old white woman of Irish descent presented with a 4-week history of a right breast mass associated with edema and enlargement of the breast. Her family history was significant for inflammatory breast cancer (IBC) in her mother, who was diagnosed and died at age 35, as well as for breast cancer in a paternal aunt diagnosed at age 55. On physical examination, she had an enlarged right breast with a palpable 9 cm mass in its inferolateral aspect, with peau d’orange skin changes around the right nipple (Figure 1) and associated ipsilateral axillary lymphadenopathy. Her left breast was unremarkable. Diagnostic ultrasound (Figure 2) showed an irregular 5-cm mass at the 9 o’clock position, bilateral nodular tissue densities seen throughout both breasts, and right axillary adenopathy. Thickened dermis was noticed in the periareolar area and the inferior aspect of the right breast. A core biopsy of the right breast mass revealed a grade III, infiltrating ductal carcinoma with associated high-grade ductal carcinoma in situ (DCIS). The tumor was estrogen receptor (ER)-positive (80%) and negative for progesterone (PR), human epidermal growth factor receptor 2 (HER2), and epidermal growth factor receptor (EGFR). A single-site skin punch biopsy did not show invasion of the dermal lymphatics; however, given the constellation of findings and the typical course, the clinical diagnosis of inflammatory breast cancer was made. A staging positron emission tomography (PET) scan demonstrated increased uptake in the right internal mammary, right paratracheal, and cervical lymph nodes. A biopsy of the paratracheal lymph node confirmed the presence of breast cancer metastasis.