Paget’s Disease of the Breast

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This blog is for informational purposes only and should not be taken as medical advice. Content is sourced from third parties, and we do not guarantee accuracy or accept any liability for its use. Always consult a qualified healthcare professional for medical guidance.

What is Paget’s Disease of the Breast?

Paget’s disease of the breast is a rare form of breast cancer that begins in the nipple and often extends to the areola, the darker skin surrounding the nipple. It accounts for 1-4% of all breast cancer cases and is usually associated with an underlying ductal carcinoma in situ (DCIS) or invasive ductal carcinoma in the breast tissue. The cancer cells, known as Paget cells, migrate from the ducts to the skin of the nipple, causing characteristic changes. It primarily affects women over 50 but can occur in men, and in 2025, it’s diagnosed in approximately 1,000-2,000 US cases annually, often at an early stage due to improved awareness and screening.

Symptoms

Symptoms typically start with changes in the nipple and areola, including flaky or scaly skin on the nipple, crusty, oozing, or hardened skin resembling eczema, itching, tingling, increased sensitivity, burning sensation, pain, and bloody or yellowish discharge from the nipple. The affected area may appear red, inflamed, or ulcerated, and the nipple can become inverted or flattened. These symptoms usually affect one breast and may persist or worsen despite topical treatments. In advanced cases, a lump in the breast or underarm lymph node swelling may develop, along with breast pain or skin thickening.

Causes

Paget’s disease occurs when cancer cells from an underlying breast tumor travel through the milk ducts to the nipple skin. The exact cause is unknown, but it’s linked to the same risk factors as other breast cancers, including age (over 50), family history of breast cancer, genetic mutations (e.g., BRCA1/2), dense breast tissue, hormone replacement therapy, obesity, alcohol consumption, and nulliparity. In rare cases, it can arise without an underlying tumor. In 2025, research suggests that hormonal influences and genetic alterations in ductal cells contribute to cell migration and skin involvement.

Diagnosis

Diagnosis begins with a clinical breast exam to assess nipple changes, followed by mammography or ultrasound to detect underlying tumors. A nipple biopsy (punch or wedge) confirms Paget cells through histopathology and immunohistochemistry (positive for CK7, HER2 in some cases). MRI may evaluate extent if mammography is inconclusive. Skin scrapings or nipple discharge cytology can aid, but biopsy is definitive. In 2025, molecular profiling identifies associated invasive components, improving accuracy.

Treatment

Treatment typically involves surgery: mastectomy (removal of the breast) for extensive disease or central tumors, or breast-conserving surgery (lumpectomy) with nipple-areola removal and radiation for limited cases. If underlying invasive cancer is present, lymph node dissection, chemotherapy (e.g., anthracyclines, taxanes), hormone therapy (tamoxifen for ER+), or targeted therapy (trastuzumab for HER2+) may be added. Radiation reduces recurrence in conserved breasts. In 2025, neoadjuvant therapies shrink tumors for better cosmetic outcomes, and immunotherapy trials for HER2+ cases show promise.

Future Outlook

In 2025, Paget’s disease has a good prognosis if detected early, with 5-year survival rates of 80-90% for noninvasive cases and 60-80% if invasive, similar to other breast cancers when stage-matched. Advances in targeted therapies and early screening have improved outcomes, reducing mortality by 10-15% over the past decade. Research focuses on molecular markers for noninvasive diagnosis and novel ADCs to prevent progression. By 2030, AI-enhanced mammography and personalized vaccines could achieve 95% survival, with emphasis on minimizing surgical morbidity.

Sources

The information is based on Mayo Clinic’s “Paget’s disease of the breast – Symptoms & causes” for symptoms and causes; Breastcancer.org’s “Paget’s Disease of the Breast” for understanding and treatment; NORD’s “Paget’s Disease of the Breast” for rarity and outlook; Medical News Today’s “Paget’s disease of the breast: Causes, symptoms, treatment, and more” for detailed symptoms; City of Hope’s “Paget’s Disease of the Breast” for treatment updates; and WebMD’s “Paget’s Disease of the Breast” for overview and 2025 insights.