Biologics in congenital ichthyosis: are they effective?

Background: 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.

Burden of caregivers and out-of-pocket expenditures related to epidermolysis bullosa in France.

Introduction And Objectives: Inherited epidermolysis bullosa (EB) is a heterogeneous group of genodermatoses characterized by localized or generalized skin and/or mucosal fragility. The objective of this work was to evaluate in France the burden of disease and out-of-pocket (OOP) expenditures for families with a child affected by EB.

Material And Methods: A digital questionnaire was built and distributed to parents of children with EB in partnership with the patients' association DEBRA France.

Skin Testing and Drug Provocation Tests in Epidermal Necrolysis: A French Experience.

Background: There are limited data on the use of skin testing, other than patch testing, and challenges in the evaluation of epidermal necrolysis (EN), including Stevens-Johnson syndrome and toxic epidermal necrolysis.

Objective: To report a French multicenter experience in skin testing and challenges in EN, and investigate the factors associated with tests' positivity.

Methods: All patients who were evaluated by patch tests (PTs), skin prick tests, intradermal tests (IDTs), or drug provocation tests (DPTs) for EN between 2010 and 2020 were retrospectively included through 2 French drug reaction networks.

Effectiveness and safety of dupilumab in the treatment of atopic dermatitis in children (6-11 years): data from a French multicentre retrospective cohort in daily practice.

Background: Dupilumab is the first biotherapy available for the treatment of moderate-to-severe childhood atopic dermatitis (AD).

Objective: The aim of this study was to evaluate the effectiveness and safety of dupilumab in daily practice.

Methods: Patients aged 6-11, who had received a first dose of dupilumab, were included in this multicentre retrospective cohort study.

Childhood epidermal necrolysis and erythema multiforme major: a multicentre French cohort study of 62 patients.

Introduction: The distinction between epidermal necrolysis [EN; including Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN) and overlap syndrome] and erythema multiforme major (EMM) in children is confusing. We aimed to better describe and compare these entities.

Materials And Methods: This French retrospective multicentre study included children ≤18 years old referred for EN or EMM between 1 January 2008 and 1 March 2019.

Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement.

Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) can lead to severe ophthalmologic sequelae. The main risk factor is the severity of the initial ocular involvement. There are no recommendations for ocular management during acute phase.

Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.

Inherited epidermolysis bullosa defines a heterogeneous group of genodermatoses characterized by skin and/or mucosa fragility resulting in blistering. The junctional variant (JEB) is associated with mutations affecting the genes expressing the components of the dermo-epidermal junction (DEJ) [1-2]. We report 34 JEB patients with COL17A1 genetic mutations diagnosed in our Center between 1993 and 2019.

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.

Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence of extra-cutaneous involvement and complications. A number of emergency situations may occur in the context of EB including obstruction to oral intake from oral or esophageal blisters or scarring, acute airway obstruction, acute urinary retention, sepsis and corneal erosions.

The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.

Background: Netherton syndrome (NS) is a rare disease caused by SPINK5 mutations, featuring variable skin and hair involvement and, in many cases, allergic manifestations with a risk of lethality, particularly in infants. The clinical management of NS is challenging.

Objectives: To analyse the clinical manifestations of a cohort of infants with NS managed in a reference centre and to draw up recommendations for management.

Effectiveness and safety of dupilumab for the treatment of atopic dermatitis in a real-life French multicenter adult cohort.

Background: Dupilumab is the first biologic available to treat atopic dermatitis (AD). Its effectiveness and safety were demonstrated in clinical trials.

Objective: We sought to assess the effectiveness and safety of dupilumab in adults with AD in a real-life French multicenter retrospective cohort.

Long-term evolving profile of childhood autoimmune blistering diseases: Retrospective study on 38 children.

Background: Autoimmune bullous dermatoses (AIBDs) in children are uncommon, and their long-term evolution remains unknown.

Objective: The aim of this retrospective study was to characterize the long-term prognosis of AIBDs that started during childhood.

Methods: We conducted a monocentric retrospective study, in the French dermatology centre, by including all children affected by AIBDs.

Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins).

Epidermal necrolysis (EN) encompasses Stevens-Johnson syndrome (SJS, < 10% of the skin affected), Lyell syndrome (toxic epidermal necrolysis, TEN, with ≥30% of the skin affected) and an overlap syndrome (10 to 29% of the skin affected). These rare diseases are caused, in 85% of cases, by pharmacological treatments, with symptoms occurring 4 to 28 days after treatment initiation. Mortality is 20 to 25% during the acute phase, and almost all patients display disabling sequelae (mostly ocular impairment and psychological distress).