Wu H, Elenitsas R
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is one of the most common autosomal dominant inherited disorders. In addition to multiple skin manifestations, patients with NF1 also have an increased risk for developing malignancies. We present a case of malignant nodular hidradenoma (MNH) that occurred in a patient with NF1 who had repeated local recurrences and regional lymph node metastasis and who died with metastatic disease despite multiple reexcisions, chemotherapy, and radiation. Our research of the literature showed no similar report of an MNH in NF1 patients. We also reviewed several skin disorders that have been repeatedly documented in patients with NF1, including juvenile xanthogranulomas (JXG); a triple association of JXG, NF1, and juvenile chronic myelogenous leukemia (JCML); multiple granular cell tumors at early ages; and multiple glomus tumors. The incidence of cutaneous malignant melanoma in NF1 patients has not been consistent among various reports. The relative risk of developing epithelial tumors in patients with NF1 remains largely unknown. Because of the rarity of MNH, it is currently difficult to assess whether the tumor represents a concurrent lesion or is associated with neurofibromatosis (NF).