Type I interferon response and vascular alteration in chilblain-like lesions during the COVID-19 outbreak.

BACKGROUND: The outbreak of chilblain-like lesions (CLL) during the COVID-19 pandemic has been reported extensively, potentially related to SARS-CoV-2 infection, yet its underlying pathophysiology is unclear. OBJECTIVES: To study skin and blood endothelial and immune system activation in CLL in comparison with healthy controls and seasonal chilblains (SC), defined as cold-induced sporadic chilblains occurring during 2015 and 2019 with exclusion of chilblain lupus. METHODS: This observational study was conducted during 9-16 April 2020 at Saint-Louis Hospital, Paris, France. All patients referred with CLL seen during this period of the COVID-19 pandemic were included in this study. We excluded patients with a history of chilblains or chilblain lupus. Fifty patients were included. RESULTS: Histological patterns were similar and transcriptomic signatures overlapped in both the CLL and SC groups, with type I interferon polarization and a cytotoxic-natural killer gene signature. CLL were characterized by higher IgA tissue deposition and more significant transcriptomic activation of complement and angiogenesis factors compared with SC. We observed in CLL a systemic immune response associated with IgA antineutrophil cytoplasmic antibodies in 73% of patients, and elevated type I interferon blood signature in comparison with healthy controls. Finally, using blood biomarkers related to endothelial dysfunction and activation, and to angiogenesis or endothelial progenitor cell mobilization, we confirmed endothelial dysfunction in CLL. CONCLUSIONS: Our findings support an activation loop in the skin in CLL associated with endothelial alteration and immune infiltration of cytotoxic and type I IFN-polarized cells leading to clinical manifestations.

Two enemies, one fight: An update of oral cancer in patients with Fanconi anemia.

Fanconi anemia (FA) is a rare inherited genetic condition that may lead to bone marrow failure, leukemia, and/or solid tumors. It is caused by the loss of function of at least 1 gene of the FA/BRCA pathway, which is necessary for DNA repair. Patients with FA have a 200-fold to 1000-fold risk of developing head and neck cancer, mainly oral squamous cell carcinoma (OSCC), and of doing so at a much younger age than individuals within the general population. Also, patients who have FA with OSCC have poor overall survival rates, reinforcing the necessity to detect OSCC early. The scope of the current review is to provide an update on OSCC in patients with FA.

Crossed looks on the dermatologist's position and the patient's preoccupations as to psoriasis and pregnancy: preliminary results of the PREGNAN-PSO study.

BACKGROUND: While some information on psoriasis impact on pregnancy is available, very little is known on the preoccupations of women afflicted by the disease or on the dermatologists' (D) positioning as to psoriasis and pregnancy. The 'Objectifs Peau' project demonstrated a 4.7% prevalence of psoriasis in women aged 18-45 years in France. OBJECTIVE: This project sought to further address these issues in view of a targeted action plan. METHODS: A questionnaire was made available to 361 D of different types. RESULTS: Overall, 152 D answered the questionnaire, 50.7% working in private or mixed practice and 49.3% in hospitals, with 63% females (DF) and 37% males (DM). Over the last 3 months, the mean percentage of women of child-bearing age seen by these D was 28.6%. The main issue addressed by D upon psoriasis diagnosis was the patient's wish to become pregnant in the short-term (84%), while the compatibility of drug treatment with pregnancy was the issue prioritized by patients (64%). Among DM and DF, 46% and 29% reported having been confronted with an unplanned pregnancy, with their reaction mainly dependent on the treatment taken in 66%. Regarding follow-up, 26% D declared having shared their decision-making with gynaecologists, while 56% considered the first pregnancy trimester to be the highest-risk period. Only 28% D were familiar with existing recommendations, with only 21% of them considering them appropriate. CONCLUSION: Overall, 26.2% of French psoriasis women are of child-bearing potential, in line with our dataset (28.6%). Only 56% D considered the 1st pregnancy trimester to be the highest-risk period, with only one-third familiar with existing recommendations. The gap between recommendations and actual practices must be addressed through policies that take women's preoccupations better into account.

Long-term Survival, Organ Function, and Malignancy after Hematopoietic Stem Cell Transplantation for Fanconi Anemia.

We report on long-term survival in 157 patients with Fanconi anemia (FA) who survived 2 years or longer after their first transplantation with a median follow-up of 9 years. Marrow failure (80%) was the most common indication for transplantation. There were 20 deaths beyond 2 years after transplantation, with 12 of the deaths occurring beyond 5 years after transplantation. Donor chimerism was available for 149 patients: 112 (76%) reported > 95% chimerism, 27 (18%) reported 90% to 95% chimerism, and 8 (5%) reported 20% to 89% donor chimerism. Two patients have < 20% donor chimerism. The 10- and 15-year probabilities of survival were 90% and 79%, respectively. Results of multivariate analysis showed higher mortality risks for transplantations before 2003 (hazard ratio [HR], 7.87; P = .001), chronic graft-versus-host disease (GVHD) (HR, 3.80; P = .004) and squamous cell carcinoma after transplantation (HR, 38.17; P < .0001). The predominant cause of late mortality was squamous cell carcinoma, with an incidence of 8% and 14% at 10 and 15 years after transplantation, respectively, and was more likely to occur in those with chronic GVHD. Other causes of late mortality included chronic GVHD, infection, graft failure, other cancers, and hemorrhage. Although most patients are disease free and functional long term, our data support aggressive surveillance for long periods to identify those at risk for late mortality.

Oral manifestations compatible with chronic graft-versus-host disease in patients with Fanconi anemia.

Fanconi anemia (FA) is a genetic disease that is characterized by several congenital abnormalities and progressive bone marrow failure and is associated with an increased susceptibility to malignant disorders. Currently, the only potential cure for hematological disorders is hematopoietic stem cell transplantation (HSCT). However, 1 of the most common complications after HSCT is the development of oral chronic graft-versus-host disease (cGVHD), which is also a risk factor for the development of cancer, particularly oral squamous cell carcinoma. Therefore, the purpose of this study was to describe the prevalence and characteristics of oral manifestations compatible with cGVHD in patients diagnosed with FA according to the National Institutes of Health (NIH) consensus criteria. A total of 96 patients (51 females, 45 males; median age, 16 years) with FA, who were in medical follow-up after HSCT at the outpatient clinic of the bone marrow transplantation unit (Hospital de Clínicas from the Universidade Federal do Paraná) underwent an oral evaluation between January 2013 and December 2013. Post-HSCT periods varied from 1 to 261 months and were divided into 3 periods: immediate post-HSCT period; intermediate post-HSC period, and late post-HSCT period. Among the evaluated patients, 40 of 96 (42%) presented with oral manifestations of cGVHD, with 29 of 40 (73%) of these patients in the late post-HSCT period. NIH scale scores varied from 0 to 10, and lichenoid and hyperkeratotic lesions were the abnormalities most frequently observed (100%). Overall, a high prevalence of oral manifestations was observed for cGVHD patients with FA. These data highlight the importance of monitoring oral manifestations compatible with cGVHD to identify and treat individuals with a higher risk of developing oral cancer.

Performance of distant diagnosis of dental caries by teledentistry in juvenile offenders.

BACKGROUND: Telehealth has been considered a practical and potentially cost-effective method of providing healthcare to the underprivileged population. The aim of this study was to determine whether a teledentistry system is a valid tool to screen for the presence of dental caries in a cohort of 102 Brazilian juvenile offenders. MATERIALS AND METHODS: Clinical examinations were performed to evaluate the decayed, missing, and filled teeth (DMFT) index and oral conditions of each adolescent, documented using a digital camera. For distant diagnosis, two methods of image transmission were tested. In the first, images were uploaded on a file-sharing service, and the link was sent via e-mail to one distant consultant. The other consultant received the images recorded on a compact disc. Both assessed the files and calculated the DMFT index for each case. The degree of agreement between the traditional examination and distant consultant assessments was measured by the kappa coefficient of agreement. Sensitivity and specificity were also calculated. RESULTS: According to the traditional clinical examination, 93.1% of the adolescents had at least one instance of dental caries with a mean DMFT index of 5.9. Kappa statistics ranged from "strong" to "almost perfect." Sensitivity ranged from 48% to 73%, and specificity was either 97% or 98%. CONCLUSIONS: Adolescent inmates could benefit from oral health screening using digital photography. Teledentistry appears to be a reliable alternative to the traditional oral examination for dental caries assessment.

Teledentistry: distant diagnosis of oral disease using e-mails.

OBJECTIVE: The purpose of this study was to evaluate the applicability of telediagnosis in oral medicine, through the transmission of clinical digital images by e-mail. SUBJECTS AND METHODS: The sample included 60 consecutive patients who sought oral medicine services at the Federal University of Paraná, in the state of Paraná, located in southern Brazil. The clinical history and oral lesion images were recorded using clinical electronic charts and a digital camera, respectively, and sent by e-mail to two oral medicine consultants. The consultants provided a maximum of two clinical hypotheses for each case, which were compared with biopsy results that served as the gold standard. RESULTS: In 31 of the 60 cases (51.7%), both consultants made the correct diagnosis; in 17 cases (28.3%), only one consultant made the correct diagnosis; and in 12 cases (20%), neither consultant made the correct diagnosis. Therefore, in 80% of cases, at least one consultant provided the correct diagnosis. The agreement between the first consultant and the gold standard was substantial (κ=0.669), and the agreement between the second consultant and the gold standard was fair (κ=0.574). CONCLUSIONS: The use of information technology can increase the accuracy of consultations in oral medicine. As expected, the participation of two remote experts increased the possibility of correct diagnosis.