BACKGROUND Perineural invasion (PNI) is considered a high-risk histopathologic feature in many skin cancers. Perineural invasion is a well-known poor prognostic factor of squamous cell carcinoma, but is poorly understood in the context of basal cell carcinoma (BCC). OBJECTIVE To analyze available demographic, clinical, and treatment data for BCC with PNI and the effect of these variables on recurrence patterns, disease progression, and cancer-specific mortality (CSM). METHODS A systematic review and pooled-survival analysis was performed using case reports and series of patients with perineural BCC. RESULTS This review included 159 patients from 49 publications. Of these cases, 57 patients reported at least one recurrence. Where reported, median follow-up time was 31 months for patients without recurrence (n 5 79) and 21 months for patients with recurrence (n 5 32). The cumulative incidence of CSM at 5 years was 8.5% (95% confidence interval [CI] 0.028-0.186) and the overall five-year survival was 90.9% (95% CI 0.796-0.961). CONCLUSION Male gender, multifocal nerve involvement, presence of clinical symptoms, and PNI detected on imaging are associated with poor prognosis of BCC with PNI. The high rate of disease recurrence and suboptimal cumulative incidence of CSM highlights the importance of early clinical detection, before the onset of symptomatic PNI and multifocal nerve involvement.
Introduction:
Confluent and reticulated papillomatosis (CARP) is a non-inflammatory hyperkeratotic dermatosis that commonly affects teens and young adults. While the exact pathophysiology remains unknown, multiple theories exist including familial inheritance. The present literature on genetic predisposition remains limited to intergenerational relatives and siblings.
Case:
We describe a case of recurrent CARP with identical presentation and clinical course in two monozygotic 16-year-old female twins.
Discussion:
Though familial cases of CARP have been reported, the full pathogenesis of this dermatosis remains unknown. Metabolic conditions related to insulin resistance, thyroid and pituitary derangements, and pregnancy, have also been reported in patients with CARP. Thus, there may be a gene that links CARP to the development of other endocrinologic disorders. Furthermore, the simultaneous recurrence of CARP in our monozygotic twins supports an environmental trigger theory. Thus, we hypothesize that the pathophysiology of CARP is multifactorial.
Conclusion:
This case confirms a strong genetic predisposition, suggesting a greater inheritance component than previously considered.
Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis is a progressively debilitating, frequently fatal disease caused by autoantibodies against the NMDA receptor. Risk of delayed treatment is high due to variable presentations, lack of awareness and potential false negative diagnostic studies. In this case report, a woman in her 20s presented with psychiatric manifestations and rapidly declined. Dyskinetic movements and dysautonomia were observed. Initial cerebrospinal fluid and serum anti-NMDA receptor antibodies were negative. MRI was inconclusive. Electroencephalography demonstrated extreme delta brush. Pelvic CT revealed an adnexal teratoma. She remained refractory to treatment until day 126 when, after two cycles of cyclophosphamide, she started to improve. She participated in rehabilitation with eventual discharge home on day 269. Recognising the variable presentations of anti-NMDA receptor encephalitis is important in avoiding misdiagnosis and delayed treatment. If clinical suspicion remains high despite negative results, repeat testing should be pursued. Clinical response should guide treatment decisions in refractory cases.
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