ABSTRACT
OBJECTIVE: Pseudoxanthoma elasticum (PXE) is a rare autosomal disorder with a variable phenotype that may be modulated by environmental factors. Plasma vitamin K (VK) levels may be involved in the ectopic calcification process observed in PXE. Since VK2 is predominantly produced by the gut microbiota, we hypothesized that changes in the gut microbiota of PXE patients might exacerbate the calcification process and disease symptoms. METHODS: Twenty PXE patients were included in the study and 60 gut microbiota profiles from the Biofortis laboratory database were used as controls. RESULTS: The Rhodospirillaceae family was more abundant in the PXE group while the Sphingomonadaceae family was more abundant in the control group. In a PXE severity subgroup analysis, microbiota dispersion was lower in "severe" than in "non-severe" patients, which was confirmed by permutation multivariate analysis of variance at the phylum, family and genus ranks. However, no significant association was found in a model incorporating relative abundance of bacterial families, severity score, and different blood and fecal VK species. CONCLUSION: These results suggest slight compositional changes in the gut microbiota of PXE patients. Further studies are needed to substantiate their impact on VK metabolism and the calcification process.
ABSTRACT
BACKGROUND: In areas of low physician density, especially as regards dermatologists in France, there is an increasing interest in tele-expertise. This is particularly the case in the Sarthe department, where the number of physicians continues to decline and access to care was further limited by the COVID 19 epidemic. STUDY DESIGN: We retrospectively collected data from tele-expertise requests submitted to Le Mans General Hospital by general practitioners via a dedicated platform between May 6, 2019, and April 9, 2021. RESULTS: Six hundred and forty three requests relating to 90 different diagnoses were recorded during this period. One hundred and thirty four patients (20% of requests) were invited to attend a face-to-face consultation within an average of 29â¯days. DISCUSSION: Through the use of tele-expertise at Le Mans Genreal Hospital it was possible to introduce a means of tackling the problem of the lack of dermatologists in the Sarthe department. Rapid responses enabled the number of consultation requests to be reduced, leading to fewer population displacements in the context of the present pandemic. CONCLUSION: These initial results are encouraging and confirm that tele-expertise seems a satisfactory option to optimize access to care for populations in areas of low physician density.
Subject(s)
COVID-19 , Physicians , Telemedicine , Male , Humans , Retrospective Studies , Hospitals, General , COVID-19/epidemiology , FranceABSTRACT
BACKGROUND: Herein we present a case of palmoplantar keratoderma (PPK) in a young adopted girl of Chinese origin living in France. OBSERVATION: The patient, aged six years, had presented transgressive PPK since birth, as well as erythema progressing in congestive inflammatory episodes, palmoplantar hyperhidrosis and progressive characteristics (moderate hyperkeratosis in areas of rubbing other than the palms and soles, namely the elbows and knees). Histopathological examination of a skin biopsy revealed a thick epidermis with lengthening and thickening of crests. The epithelium displayed a thick granular layer. Electron microscopy showed hyperorthokeratosis with hypergranulosis and loss of lamellar structure of the keratinosomes, as well as cleavage between corneocytes. Molecular studies showed the presence of two composite heterozygous mutations of the SERPINB7 gene, enabling a diagnosis of Nagashima-type PPK (NPPK) to be made. DISCUSSION: NPPK is an autosomal recessive disease caused by a mutation in the SERPINB7, a member of the superfamily of serine protease inhibitors. It was described by Nagashima in 1977 with molecular characterisation by Kubo following in 2013. It is the most widespread form of PPK in Asia (with a prevalence of 1.2/10,000 in Japan and 3.1/10,000 in China). It is distinguished from the other PPKs in terms of transgressive soft hyperkeratosis, inflammatory episodes and hyperhidrosis, as well as by its non-progressive nature. In the present case, while the clinical presentation was characteristic, diagnosis was only made thanks to sequencing of a panel of over 50 genes responsible for PPK. The disease is effectively little-known in Europe. This study highlights the increasing importance of diagnostic investigation methods involving the use of gene panels.