The purpose of this study was to retrospectively review the clinical characteristics and outcomes of a series of women with Paget's disease of the vulva. A retrospective review was performed of 89 women with Paget's disease of the vulva evaluated at a single institution between 1966 and 2010. Medical records were reviewed for demographic information, clinical data, pathologic findings, treatment modalities and outcomes. We found that the primary treatment was surgery for 74 (83.1%) patients, with positive margins noted in 70.1% of cases. Five patients (5.6%) underwent topical treatment with imiquimod and/or 5-fluorouracil, one patient (1.1%) underwent laser ablation and treatment was unknown in 9 patients (10.1%). The majority of patients had multiple recurrences, with 18% having four or more recurrences. There were no significant differences in recurrence rates between patients who underwent surgery and those who did not. Furthermore, there was no association between positive margins following primary surgery and recurrence. Forty-one patients (46.1%) were diagnosed with 53 synchronous or metachronous cancers. Seven patients (7.9%) were found to have invasive vulvar cancer with 1 mm or more depth of invasion, but none of the patients died of Paget's disease or associated vulvar/vaginal cancer. Our findings suggest that the majority of patients with Paget's disease of the vulva develop multiple recurrences regardless of treatment modality or margin status. Alternatives to surgery are needed to better care for women with this disease.

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Nocardiosis is an opportunistic infection in patients with depressed cell-mediated immunity. Inhalation is the primary route for exposure via dust particles. Patients with acquired immune deficiency syndrome (AIDS) are at increased risk of disseminated disease. A challenge in the diagnosis of pulmonary nocardiosis is that it can mimic other pulmonary diseases. Nocardia farcinica tends to be a more virulent, multidrug-resistant strain with an increased tendency to disseminate. This report describes a 64-year-old man with AIDS found to have pulmonary nocardiosis that did not respond to standard antibiotic therapy. Further evaluation revealed the virulent, multidrug-resistant Nocardia farcinica species. Targeted antibiotic therapy was initiated, after which the patient had an improvement in pulmonary symptoms. It is important to suspect pulmonary nocardiosis in immunocompromised patients who fail to respond to standard antimicrobial therapy. Susceptibilities should be obtained so that appropriate therapy can be promptly initiated as Nocardia farcinica is highly resistant to multiple antimicrobials.

Fabry disease (FD) is one of the most common lysosomal storage disorders and is caused by an X-linked progressive inborn error of metabolism in the alpha-galactosidase A (α-Gal A) gene. This leads to intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), throughout the body. The impact of this accumulation is seen across multiple cell lines and therefore can cause multisystem organ dysfunction. The phenotype of FD results from variants on the GLA gene which codes for α-Gal A production, and variants on this gene have been shown to be strongly related to unexplained or idiopathic cardiovascular disorders. This report describes a 36-year-old Caucasian male found to have left ventricular hypertrophy (LVH) followed by genetic testing because of his family history of sudden cardiac death which revealed a variant of unknown significance for the GLA gene. Further measurement of α-Gal A leukocyte activity showed low levels, which was diagnostic for FD. The index patient had an unusual non-classic phenotype in that his sole presenting symptom was asymptomatic LVH, he presented early, and had low α-Gal A leukocyte activity. Early detection and prompt treatment with enzyme replacement therapy can improve outcomes and decrease mortality. In the absence of known risk factors, non-classical FD should be strongly considered in patients with unexplained LVH and a family history of sudden cardiac death at a young age.

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