[Human dirofilariasis: 3 cases in the south of France]

INTRODUCTION: Dirofilariasis is a zoonosis usually found in dogs and cats. It is rare in humans, who are dead-end hosts for the parasite. CASES: We report 3 cases of subcutaneous dirofilariasis due to Dirofilaria repens, contracted in the south of France (Alpes-Maritimes and Corsica). In the first two cases, the dirofilariasis manifested as lymph node enlargement; in the third case, lung disease suggested a systemic diffusion of microfilariae. DISCUSSION: Dirofilaria repens dirofilariasis is due to the transmission of microfilariae by some mosquito bites (Aedes, Culex, Anopheles, Mansonia, Psorophora and Taeniorhynchus). Usually only one larva develops, producing an immature adult worm inside a node. Ultrasound examination may suggest the parasitic origin of the lesion. It is treated surgically, by excision, without chemotherapy. Very rarely, an adult worm may mature and produce systemic diffusion of microfilariae. The nodule in the third case contained a gravid adult female worm but we found no microfilariae. Dirofilariosis can present problems in diagnosis and treatment. It must be considered in patients with an isolated nodule

Lethal Form of Keratitis–Ichthyosis–Deafness Syndrome Caused by the GJB2 Mutation p.Ser17Phe

International audienceKeratosis–Ichthyosis–Deafness (KID) syndrome is a rare form of ichthyosis caused by mutations in the gene GJB2 encoding the gap junction protein connexin 26 (Cx26). Connexins are a family of integral membrane proteins forming gap junction channels that control and coordinate a variety of cellular activities through the exchange of small ions, metabolites and signalling molecules

Fatal cerebral malaria diagnosed after death in a French patient.

International audienceWe report on the case of a French citizen who was found dead in his home, 4 days after returning from Cameroon. The patient died of imported malaria, as revealed by the postmortem investigations. Few such cases have been reported throughout the world. This article reviews deaths due to malaria diagnosed at the time of autopsy in France between 1995 and 2005. We conclude that the nonspecific symptoms of malaria can lead to a misdiagnosis and the need for a forensic expert to intervene at the scene of death, which usually occurs in the home. We will remind forensic pathologists of the clinical, biologic, and forensic aspects of this infectious disease. In particular, the uses of microbiologic analyses, the QBC malaria test and the Core malaria Pan/Pv/pf test as well as brain tissue histology will be reviewed

Pigmented macules of bony prominences (PMBP): A distinct presentation in patients with red hair

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BRCA1/2 Pathogenic Variants Are Not Common in Merkel Cell Carcinoma: Comprehensive Molecular Study of 30 Cases and Meta-Analysis of the Literature

International audienceMerkel cell carcinoma (MCC) is a rare and aggressive cutaneous neuroendocrine cancer. Management of advanced MCC is mainly based on immune-checkpoint inhibitors. The high failure rate warrants an investigation of new therapeutic targets. The recent identification of BRCA1 or BRCA2 (BRCA1/2) mutations in some MCC raises the issue of the use of poly-(ADP-Ribose)-polymerase inhibitors in selected advanced cases. The main objective of our study is to determine the accurate frequency of BRCA1/2 pathogenic variants. We studied a series of 30 MCC and performed a meta-analysis of BRCA1/2 variants of published cases in the literature. In our series, we detected only one BRCA2 pathogenic variant. The low frequency of BRCA1/2 pathogenic variants in our series of MCC (3%) was confirmed by the meta-analysis of BRCA1/2 variants in the literature. Among the 915 MCC from 13 published series studied for molecular alterations of BRCA1/2, only 12 BRCA1/2 pathogenic mutations were identified (1À2% of MCC), whereas many other BRCA1/2 variants were variants of unknown significance or benign. BRCA1/2 pathogenic variants are uncommon in MCC. However, in BRCA-mutated MCC, poly-(ADP-Ribose)-polymerase inhibitors might be a valuable therapeutic option requiring validation by clinical trials

Clinicopathologic and molecular analyses of cutaneous leiomyosarcoma: A retrospective, multicenter study of 79 cases

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