ABSTRACT
We report a case of a 51-year-old woman with neurofibromatosis who presented in 2012 with postmenopausal bleeding. Excision biopsy of a pigmented lesion of the labia minora was consistent with an ulcerated vulvar BRAF wild type malignant melanoma (MM). Initial excision was followed by radical vulvectomy and adjuvant interferon. Local recurrence in January 2017 was further resected. Positron emission tomography (PET)-CT in May 2017 identified an FDG avid omental deposit; consistent histologically with MM when resected. Postoperative PET-CT in August 2017 demonstrated local recurrence. In the setting of resected stage IV disease and a third local recurrence, the decision was made to instigate immunotherapy. Vulvar melanoma is rare accounting for 0.2% of all melanoma. Presentation is typically a decade later than cutaneous melanoma with a tendency to late metastases and poorer prognosis. Given their rarity the treatment paradigm is less clearly defined and largely extrapolated from that of cutaneous melanomas.
Subject(s)
Gastrointestinal Stromal Tumors/diagnostic imaging , Melanoma/diagnostic imaging , Neoplasm Recurrence, Local/diagnostic imaging , Neurofibromatoses/diagnostic imaging , Vulvar Neoplasms/diagnostic imaging , Female , Gastrointestinal Stromal Tumors/drug therapy , Humans , Immunotherapy , Melanoma/drug therapy , Middle Aged , Neoplasm Recurrence, Local/drug therapy , Neurofibromatoses/drug therapy , Positron Emission Tomography Computed Tomography , Treatment Outcome , Vulvar Neoplasms/drug therapySubject(s)
Adenocarcinoma, Mucinous/diagnosis , Colonic Neoplasms/diagnosis , Lymphatic Metastasis/diagnostic imaging , Neoplasm Recurrence, Local/diagnosis , Venous Thrombosis/diagnostic imaging , Adenocarcinoma, Mucinous/complications , Adenocarcinoma, Mucinous/therapy , Anticoagulants/therapeutic use , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Camptothecin/analogs & derivatives , Camptothecin/therapeutic use , Chemotherapy, Adjuvant , Colectomy , Colonic Neoplasms/complications , Colonic Neoplasms/therapy , Fluorouracil/therapeutic use , Humans , Leucovorin/therapeutic use , Lymph Nodes/diagnostic imaging , Lymph Nodes/pathology , Lymphatic Metastasis/pathology , Male , Mesenteric Veins/diagnostic imaging , Mesenteric Veins/pathology , Mesenteric Veins/surgery , Mesentery/blood supply , Mesentery/diagnostic imaging , Mesentery/pathology , Middle Aged , Neoplasm Invasiveness/diagnostic imaging , Neoplasm Invasiveness/pathology , Neoplasm Recurrence, Local/complications , Neoplasm Recurrence, Local/drug therapy , Organoplatinum Compounds/therapeutic use , Positron Emission Tomography Computed Tomography , Thrombectomy , Treatment Outcome , Venous Thrombosis/etiology , Venous Thrombosis/therapyABSTRACT
Neuronal intranuclear (hyaline) inclusion disease (NIID) is a rare neurodegenerative disorder with a variable clinical presentation and multiple subtypes. We present the clinicopathologic details of a patient with juvenile-onset NIID and discuss the pathogenesis. We also discuss the utility of antemortem skin biopsy which was negative in our case.
