Publications by authors named "Bodemer C"
Background: Epidermolysis bullosa (EB) is a group of rare, severe, genetic disorders characterised by persistent skin fragility and open wounds. EB manifests as cutaneous and mucosal blistering, erosions and impaired wound healing.
Objectives: To determine the long-term efficacy, tolerability and safety of Oleogel-S10 (birch bark extract) in dystrophic (DEB) and junctional (JEB) EB in the 24-months open-label phase (OLP) of the EASE study.
Background: Inherited epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by skin fragility and unique oral features. It requires interdisciplinary care from several health professionals, including oral health teams. Modern dentistry encompasses a wide range of therapeutic options performed by specialists from different fields.
View Article and Find Full Text PDFIntroduction: Netherton syndrome (NS; OMIM#256500) is a rare and severe disorder of epidermal maturation and keratinization caused by pathogenic variants in the serine protease inhibitor Kazal type 5 (SPINK5), leading to severe skin barrier impairment. Although effective treatment is crucial for NS patients, there is a lack of knowledge on what the best treatment options are for these patients. Large heterogeneity in reported outcomes and measurement instruments hinders accurate comparison of treatment results across studies and the development of a treatment guideline.
View Article and Find Full Text PDFBackground: Congenital ichthyoses comprise a heterogeneous group of genetic diseases that require lifelong treatment and have a major impact on patients' quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in congenital ichthyoses has raised the possibility of repurposing currently available biologics.
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- * A study examined 131 female patients with X-linked dominant incontinentia pigmenti (IP), finding that 36% produced autoantibodies against IFN-α and/or IFN-ω, significantly higher than age-matched controls.
- * The presence of these autoantibodies is linked to an abnormally small thymus and predisposes patients to life-threatening viral infections, while those without these autoantibodies do not face the same risk.
Article Synopsis
- Advanced systemic mastocytosis (AdvSM) is a complex condition linked to poor outcomes, and while midostaurin is the first approved treatment, its long-lasting effectiveness is limited.
- Various prognostic scoring systems like MARS, IPSM, and GPSM have been developed to assess patients' outcomes, but it's essential to tailor these scores to specific AdvSM subtypes for better accuracy.
- A study of patients treated with midostaurin revealed that MARS and AdvSM subtype significantly predict overall survival, identifying five distinct patient subgroups with varying median survival times, highlighting the need for personalized management strategies.
Article Synopsis
- Breaking bad news is a challenging communication task in medicine, prompting a study on the effectiveness of an active learning course for fifth-year students.
- Students were split into two groups: one received hands-on training with multidisciplinary discussions and video workshops, while the other only attended traditional classes.
- Results showed that the actively trained group scored significantly higher in communication skills during practical exams, indicating the training's effectiveness, but further research is needed for long-term validation.
Article Synopsis
- Infants with severe epidermolysis bullosa (EB) often face dehydration and malnutrition, but their nutritional needs are not well studied.
- A study looked at 27 newborns with EB to assess their nutritional status and found many had low sodium levels and needed extra fluids and sodium.
- The results suggest that these infants require higher food and nutrient intake than usual to grow properly and stay healthy, especially during their first month of life.
Acute generalized exanthematous pustulosis: European expert consensus for diagnosis and management.
J Eur Acad Dermatol Venereol
November 2024
Article Synopsis
- Acute generalized exanthematous pustulosis (AGEP) is a rare, typically drug-induced rash that presents as pustules and lacks solid evidence for effective treatment with corticosteroids, yet they are commonly prescribed.
- The ToxiTEN group, comprising European dermatologists and allergologists, created recommendations for diagnosing and managing AGEP based on their expertise and literature review.
- These expert guidelines outline necessary healthcare professionals, diagnostic processes, management strategies, and follow-up care, emphasizing the importance of a collaborative approach to treatment.
Article Synopsis
- UNC93B1 is a protein involved in signaling for Toll-like receptors, which are important for the immune response.
- Mutations in UNC93B1 (I317M, G325C, L330R, R466S, and R525P) have been linked to conditions like systemic lupus erythematosus (SLE) and chilblain lupus (CBL), exhibiting both autosomal dominant and recessive inheritance patterns.
- Different mutations impact the activity of TLR7 and TLR8 differently, suggesting that specific mutations in UNC93B1 lead to varying disease mechanisms for SLE and CBL.
Article Synopsis
- Epidermal necrolysis (EN) includes severe conditions like Stevens-Johnson syndrome and is primarily drug-induced, with notable differences in incidence and outcomes between children and adults.
- A study analyzed data from the French Health System to compare EN cases in both demographics, examining incidence, suspected drug exposure, and mortality rates.
- Results showed that EN is less common in children (1.5 cases/million) compared to adults (2.6 cases/million), with children having a lower rate of drug exposure before onset and significantly lower mortality (1.4% vs. 19.4%).
Purpose: Epidermolysis bullosa (EB) is a heterogeneous group of genetically inherited skin and mucosal fragility disorders. EB may have a profound impact on parental physical and psychosocial health. This study was designed to evaluate the disease burden in parents of patients with EB and identify out-of-pocket (OOP) expenditures for EB care in Saudi Arabia.
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- Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious skin reactions mainly triggered by drugs, with limited research on their occurrence in children.
- A study analyzed pediatric cases of SJS-TEN from the WHO VigiBase database to identify drugs associated with these reactions, covering data from 1967 to 2022.
- The research found significant signals for 165 drugs, predominantly antiepileptics and anti-infectious medications, with lamotrigine and carbamazepine being the most notable, while it ruled out vaccines as a significant risk factor.
Article Synopsis
- Inherited epidermolysis bullosa (EB) is a group of genetic skin disorders that cause blisters from minor injuries, affecting the quality of life (QoL) for patients and caregivers.
- The study aimed to create and test Italian translations of two validated EB-specific questionnaires, QOLEB and EB-BoD, to assess patient and family disease burden.
- The translation process involved creating two initial versions, reconciling them with experts, and successfully pilot-testing them with 17 families, confirming their clarity and usability in clinical practice.
Background And Aims: Systemic mastocytosis (SM) is characterized by the accumulation of atypical mast cells (MCs) in organs. Liver histology of SM has been marginally described and accurate histological classification is critical, given the consequences of aggressive SM diagnosis. We aimed to describe the histological features associated with liver SM using updated tools.
View Article and Find Full Text PDFFrench national protocol for the management of congenital ichthyosis.
Ann Dermatol Venereol
March 2024
Article Synopsis
- * CI significantly affects quality of life and typically requires ongoing treatment, as there is currently no cure, only options for managing symptoms.
- * The management protocol for CI, developed in line with 2012 guidelines from the French National Authority for Health, aims to provide clinicians with evidence-based recommendations for treating these rare conditions.
Article Synopsis
- Autoimmune polyendocrine syndrome type-1 (APS-1) is linked to mutations in the AIRE gene, leading to multiple autoimmune issues and neutralizing antibodies that cause conditions like mucosal candidiasis and susceptibility to viral infections.
- Ruxolitinib, a JAK inhibitor, was successfully used off-label to treat three APS-1 patients over 30 months without any adverse effects, showing significant improvement in various autoimmune symptoms.
- These findings indicate that JAK inhibitors could be a promising treatment for APS-1 and that further research is warranted to evaluate their effectiveness across a larger patient population.