Red flags for the differential diagnosis of granulomatous mastitis: a case report.

BACKGROUND: Granulomatous mastitis (GM) is a rare benign chronic inflammatory breast disease. GM presents as a heterogeneous illness with variable clinical presentations, and its diagnosis is usually made by exclusion. There are no guidelines for the treatment of GM. This manuscript describes the management of a patient with GM, initially unsuccessfully treated outside our clinic under a diagnosis of mastitis. The patient's history, physical examination, and needle biopsy flagged the patient's findings as nonmalignant; however, imaging studies indicated a tumor. Differential diagnosis became a critical element of her care. This case report represents a valuable resource to foster more assertive clinical practice in managing patients with GM. The case coordination and its course were led by a team from an outreach clinic that provides health care services to underserved communities in the state of Michigan. CASE PRESENTATION: A 41-year-old G1P1 Hispanic female immigrant from Central America presented with a rare breast disease, granulomatous mastitis. A similar presentation occurred 5 years before pregnancy when she had an episode of pain and swelling in the left breast, which resolved spontaneously. She sought our services after being diagnosed with mastitis that was unsuccessfully treated. Physical examination revealed a nodular mass in the outer quadrants of the left breast without regional lymphadenopathy. Needle biopsy showed fibrohistiocytic and florid inflammatory reactions, with no evidence of invasive carcinoma. However, this result was inconsistent with the degree of abnormality revealed by the mammogram (BI-RADS grade 5), ultrasound, and physical examination. Full incisional biopsy revealed cystic neutrophilic GM. The surgical procedure, antibiotics, and corticosteroids resulted in a successful combination to secure the stable control of the symptoms and progression of this rare benign breast disease to date. CONCLUSIONS: This patient's case highlights the importance of integrated communication among front-line primary care and other health care professionals to reduce the risk of invasive procedures and avoid institutional costs. GM is a rare disease. We raised the manifold red flags in which the multiple professional chains recruited to care for this patient were concerning for advanced breast cancer. The lack of experience and evidence-based medicine contributed to the contradictory interpretation of the findings on GM's diagnosis.

Robot-Assisted Reconstruction in Head and Neck Surgical Oncology: The Evolving Role of the Reconstructive Microsurgeon.

Transoral robotic surgery (TORS) is gaining more widespread use among head and neck surgical procedures. As experience grows with this technique, so do the indications of when and in which patients it can be used. Already established in the treatment of small oral cavity tumours, it is expanding into larger multi-site resections and resections, such as through-and-through-into-the-neck defects, that will require reconstruction. With robot-assisted surgery advancing, so robot-assisted reconstruction (RAR) is evolving. In this paper, we discuss the evolving role of reconstruction in post-TORS defects as well as the role of RAR in today's practice.

Diagnosis, management and outcomes of necrotising soft tissue infection within a Plastic and Reconstructive Surgery unit.

BACKGROUND AND AIMS: Necrotising soft tissue infection (NSTI) is an extremely serious condition that relies on a high index of suspicion, prompt diagnosis and emergent radical surgical treatment. We explored the presentation, management and outcomes of NSTI within our department. We also assessed the potential benefit of using risk predictor scoring system. METHODS: Retrospective review using departmental electronic database and hospital records. RESULTS: Twenty-four patients were treated for NSTI within our department between 2004 and 2010. Seventeen presented in our hospital to various surgical and medical teams. All patients presented with pain, swelling, erythema and tenderness at palpation. Only 40% of necrotising fasciitis and 28.6% of Fournier's gangrene were diagnosed as NSTI at initial assessment. Average mean interval time from admission to primary surgery was 17.7 h and 4 h from diagnosis to primary surgery. There were four mortalities. The average risk predictor Laboratory Risk Indicator for Necrotising Fasciitis score was 7.9. Significant morbidities post-operatively included bowel stoma, long-term urinary catheter and new diagnoses of carcinomas. CONCLUSION: Physicians and surgeons need to be suspicious of NSTI in severe cases of soft tissue infection to prevent delay in diagnosis and life-saving treatment. Scoring system can be used judiciously as adjunct to aid diagnosis.

Management of cutaneous metastases using electrochemotherapy.

BACKGROUND: Cutaneous metastases may cause considerable discomfort as a consequence of ulceration, oozing, bleeding and pain. Electrochemotherapy has proven to be highly effective in the treatment of cutaneous metastases. Electrochemotherapy utilises pulses of electricity to increase the permeability of the cell membrane and thereby augment the effect of chemotherapy. For the drug bleomycin, the effect is enhanced several hundred-fold, enabling once-only treatment. The primary endpoint of this study is to evaluate the efficacy of electrochemotherapy as a palliative treatment. METHODS: This phase II study is a collaboration between two centres, one in Denmark and the other in the UK. Patients with cutaneous metastases of any histology were included. Bleomycin was administered intratumourally or intravenously followed by application of electric pulses to the tumour site. RESULTS: Fifty-two patients were included. Complete and partial response rate was 68% and 18%, respectively, for cutaneous metastases <3 cm and 8% and 23%, respectively, for cutaneous metastases >3 cm. Treatment was well-tolerated by patients, including the elderly, and no serious adverse events were observed. CONCLUSIONS: ECT is an efficient and safe treatment and clinicians should not hesitate to use it even in the elderly.

The evidence for the role of transforming growth factor-beta in the formation of abnormal scarring.

The complex biological and physiological mechanisms that result in poor quality scarring are still not fully understood. This review looks at current evidence of the role of transforming growth factor-beta (TGFß) in this pathological process.

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

BACKGROUND: Mutations in the gene encoding mitochondrial DNA polymerase gamma (POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a mitochondrial disease-autosomal dominant or recessive progressive external ophthalmoplegia-and multiple deletions of mtDNA. Mitochondrial dysfunction is also suspected to participate in the pathogenesis of Parkinson's disease. However, no primary gene defects affecting mitochondrial proteins causing mendelian transmission of parkinsonism have been characterised. We aimed to analyse the gene sequence of POLG in patients with progressive external ophthalmoplegia and their healthy relatives. METHODS: In seven families of various ethnic origins we assessed patients with progressive external ophthalmoplegia and unaffected individuals by clinical, biochemical, morphological, and molecular genetic characterisation and positron emission tomography (PET). FINDINGS: We recorded mutations in POLG in members of all seven families. Clinical assessment showed significant cosegregation of parkinsonism with POLG mutations (p<0.0001), and PET findings were consistent with dopaminergic neuron loss. Post-mortem examination in two individuals showed loss of pigmented neurons and pigment phagocytosis in substantia nigra without Lewy bodies. Furthermore, most women with progressive external ophthalmoplegia had early menopause-before age 35 years. The POLG gene defect resulted in secondary accumulation of mtDNA deletions in patients' tissues. INTERPRETATION: Dysfunction of mitochondrial POLG causes a severe progressive multisystem disorder including parkinsonism and premature menopause, which are not typical of mitochondrial disease. Cosegregation of parkinsonism and POLG mutations in our families suggests that when defective, this gene can underlie mendelian transmission of parkinsonism. RELEVANCE TO PRACTICE: Awareness that mitochondrial POLG mutations can underlie parkinsonism is important for clinicians working in diagnosis of movement disorders, as well as for studies of the genetics of Parkinson's disease. Further, progressive external ophthalmoplegia with muscle weakness and neuropathy can mask symptoms of parkinsonism, and clinicians should pay special attention to detect and treat parkinsonism in those individuals.