Deirdre Kelly

An unusual case of basal cell carcinoma of the vulva with lung metastases

Basal cell carcinoma (BCC) is the most common non-melanomatous skin cancer, typically arising in sun-exposed areas such as the head and neck. Defective signaling through the Hedgehog (HH) signaling pathway forms the molecular basis for BCC. Surgery remains the mainstay of treatment. Basal cell carcinoma of the genital tract is rare as is metastatic BCC. We report a case of metastatic BCC in a young woman with previously resected vulval BCC presenting six years later with inguinal nodal recurrence and multiple lung metastases.

Progressive multifocal leukoencephalopathy secondary to rituximab-induced immunosuppression and the presence of John Cunningham virus: a case report and literature review

We present the case of a 60-year-old man who developed subacute neurologic changes, in the setting of stage III non-Hodgkins follicular lymphoma, and was treated with induction chemotherapy, followed by a year of maintenance rituximab. Magnetic resonance imaging of the brain with gadolinium was pathognomonic for progressive multifocal leukoencephalopathy (PML). He was treated with sequential plasmapheresis and intravenous immunoglobulin with clinical improvement. A literature review of the diagnostic workup of rituximab-induced PML was undertaken. This case and the literature review demonstrate the important role of magnetic resonance imaging of the brain in diagnosis and follow-up of rituximab-induced PML. Specific radiologic features in combination with cerebrospinal fluid can be diagnostic and avoid the morbidity and mortality of a diagnostic brain biopsy. Plasmapheresis and intravenous immunoglobulin have a therapeutic role and demonstrate symptom improvement and disease control. Follow-up imaging in combination with clinical response is important in demonstrating a treatment response.

A case of thoracic giant cell tumor of bone and discussion of radiological features and current management practices.

Giant cell tumor of bone (GCTB) is a rare condition with distinct radiological features that aid diagnosis. We present the case of an adult female patient, with locally invasive GCTB and review important radiological and management principles. Specific radiological features include locally aggressive, lytic radiolucent lesions, which can demonstrate cortical thinning and expansile remodeling of bone and typically involve the epiphysis and metaphysis. Management is primarily surgical, and denosumab has a role in the advanced setting.

Primary vaginal melanoma in the setting of mucosal melanosis - A case report and literature review

We present a rare case of localised, biopsy proven vaginal melanoma and vaginal melanosisin a Caucasian 66 year old who presented with postmenopausal bleeding. A systematic literature review of journal articles published between December 2013 and November 2015 was performed for studies conducted in Europe and the United States of America using Medline and Pubmed. Articles were selected for review if they included large (over 10 cases)retrospective analysis, epidemiological review and genetic analysis of primary vaginal melanoma and/or primary vulvar melanoma.Our findings demonstrate the challenges of researching and treating rare diseases.