Cutaneous Signs and Syndromes Associated With Internal Malignancies

Claudia C. Ramirez, MD; Brian Berman, MD, PhD


Skinmed. 2005;4(2):84-92. 

In This Article

Neurofibromatosis (Von Recklinghausen's Disease) and Paget's Disease of the Breast

Neurofibromatosis is an autosomal dominant disorder characterized by developmental changes in the nervous system, bones, and skin. The skin lesions are neurofibromas, multiple café-au-lait macules, axillary freckles, bronzing, and giant pigmented hairy nevi. In neurofibromatosis type 1, optic gliomas are the most common central nervous system tumors. They occur in approximately 15% of patients, and may result in blindness if left untreated. Other associated central nervous system neoplasms are astrocytomas, vestibular schwannoma (acoustic neuroma), and less often, ependymomas and meningiomas. In neurofibromatosis type 2, there is a close association with acoustic neuromas. Patients with neurofibromatosis are at risk for developing other tumors of neural crest origin, such as neurofibrosarcoma, pheochromocytoma, and rhabdomyosarcomas.

Paget's disease of the nipple and areola is characterized by an erythematous, eczematous plaque with irregular borders surrounding the nipple that simulate chronic dermatitis. Infiltration and induration may be present early on, and in later stages a nodule may develop. Histologically, infiltration of the epidermis by pale-staining malignant cells with a large nucleus, or Paget cell is characteristic. Paget's disease involving breast skin is always associated with underlying intraductal carcinoma of the ipsilateral breast that may metastasize to the axillary lymph nodes. It represents 0.5%-4.3% of all breast cancers and occurs mostly in women.[26]