Reduction in Dressing Change Burden in Patients With Epidermolysis Bullosa-Impact of Oleogel-S10.

Epidermolysis bullosa (EB) is a severe genetic disorder marked by skin fragility and blistering from minimal trauma. Management relies on frequent and painful dressing changes. The EASE study (NCT03068780), the largest to date in EB, previously demonstrated accelerated wound healing and reduced wound burden for Oleogel-S10 (birch triterpenes) versus control gel.

Child and Family Characteristics Associated With Age of Autism Spectrum Disorder Diagnosis in a Primary Care Population.

Objective: To compare a sample of pediatric primary care patients diagnosed with autism spectrum disorder (ASD) with the general clinic population, as well as associations of child and caregiver characteristics with age of diagnosis.

Method: Cross-sectional data for patients from 2 large, urban primary care practices diagnosed with ASD between March 1, 2018, and February 28, 2022, were collected from the medical record through extraction and chart review. The sample was compared with the total primary care population using χ2 analysis.

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients.

Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss-of-function pathogenic variants in the CAST gene, encoding calpastatin. A total of 19 cases have been described in 12 articles, among families with unique de novo genetic variants of CAST. We describe two pediatric PLACK cases with a homozygous loss-of-function CAST variant (c.

Loss-of-function variants in DUSP1 encoding dual specificity phosphatase 1 cause palmoplantar keratoderma.

Background: Dual specificity phosphatase 1 (DUSP1) has recently been shown to regulate keratinocyte (KC) proliferation through extracellular regulated kinase (ERK) signalling.

Objectives: To delineate the genetic basis underlying inherited palmoplantar keratoderma (PPK) in two families.

Methods: We used whole-exome and direct sequencing, quantitative real-time polymerase chain reaction, protein modelling, immunofluorescence confocal microscopy, immunoblotting, three-dimensional skin equivalents and the dispase-based KC dissociation assay.

Nonsyndromic epidermal differentiation disorders: New classification and nomenclature based on disease-associated genes leading to targeted therapy.

Epidermal differentiation disorders (EDDs) encompass inherited conditions characterized by abnormal epidermal differentiation, including nonsyndromic and syndromic subtypes with more extensive cutaneous involvement or palmoplantar keratodermas. Nonsyndromic EDDs (nEDDs) are defined as disorders that primarily affect large areas of skin and adnexal structures without alterations in extracutaneous tissues resulting from the underlying genetic change. To facilitate the development of targeted therapies and provide clinicians with clearer therapeutic guidance, we have recently developed a new nomenclature for EDDs that includes the causative altered gene and the nEDD subgroup designation, sometimes with a clinical or histological descriptor or acronym.

Management of congenital ichthyoses: guidelines of care: Part two: 2024 update.

In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses after a multidisciplinary expert meeting held in 2016. An update of these guidelines and literature search was planned every 5 years, given the clinical, molecular and therapeutic advances, including the use of biologic therapies. We present here updated guidelines that have been developed by a reorganized multidisciplinary group of international experts after a systematic review of recent literature, discussions and consensus reached at an expert conference held in June 2023.

Syndromic epidermal differentiation disorders: New classification towards pathogenesis-based therapy.

Since the 2010 classification of ichthyoses, our understanding of hereditary epidermal differentiation disorders (EDDs) has markedly increased, allowing consideration of new therapeutic targets based on disease pathogenesis. A new gene- and protein product function-based classification focuses on shared mechanisms of disease pathogenesis, with the possibility that grouped disorders may respond similarly to new therapeutics. These EDDs have been subdivided into syndromic (sEDD), nonsyndromic with features limited to skin and appendages (nEDD), and predominantly palmoplantar skin involvement (pEDD, nonsyndromic and syndromic).

Management of congenital ichthyoses: guidelines of care: Part one: 2024 update.

In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses after a multidisciplinary expert meeting held in 2016. An update of these guidelines and literature search was planned every 5 years, given the clinical, molecular and therapeutic advances, including the use of biologic therapies. We present here updated guidelines that have been developed by a reorganized multidisciplinary group of international experts.

Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

More than 50 palmoplantar epidermal differentiation disorders (pEDDs) have been reported in the literature. Various descriptors have been used to name these conditions, including clinical features often designated as acronyms or evocative terms, and names of clinicians and of geographical locations. Not only has this nomenclature been criticized for its lack of methodological consistency, but it has also progressively lost its clinical relevance.

HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.

Epidermolysis bullosa simplex (EBS) refers to a heterogeneous group of inherited skin disorders characterized by blister formation within the basal cell layer. The disease is characterized by marked variations in phenotype severity, suggesting co-inheritance of genetic modifiers. We identified three deleterious variants in HMCN1 that co-segregated with a more severe phenotype in a group of 20 individuals with EBS caused by mutations in KRT14, encoding keratin 14 (K14).

Long-term safety and efficacy of Oleogel-S10 (birch bark extract) in epidermolysis bullosa: 24-month results from the phase III EASE study.

Background: Epidermolysis bullosa (EB) is a group of rare and severe genetic disorders characterized 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 EB (DEB) and junctional EB (JEB) in the 24-month open-label phase (OLP) of the EASE study.

Beyond Classification: A Unique Case of Self-Resolving Cutaneous Mucinosis Associated With Streptococcal Infection in a Child.

A 3-year-old boy presented with an unusual combination of indurated skin, sclerotic plaques with lichenification, and yellowish papules. Histopathology revealed diffuse dermal mucin deposits, and laboratory tests showed a positive throat culture for Group A streptococcus and elevated serum anti-streptolysin titers. An 10-day course of oral amoxicillin was associated with near-complete resolution of all dermatological findings within 4 months.

"I'm His Voice": Parent Perspectives on Obtaining an Autism Diagnosis and Services and the Influence of Personal and Cultural Factors.

To assess caregiver-reported barriers and facilitators to receiving a diagnosis of Autism Spectrum Disorder (ASD) and accessing services as well as the influence of personal and cultural factors.Participants included 29 parents whose children had been diagnosed with ASD between January 2019 and November 2021 while receiving primary care at one of two urban, hospital-affiliated clinics. Semi-structured interviews and surveys were conducted between May 2022 and June 2023 in both English and Spanish.

Relationship among sleep, work features, and SARS-cov-2 vaccine antibody response in hospital workers.

Study Objectives: Immunity is influenced by sleep and the circadian rhythm. Healthcare workers are predisposed to both insufficient sleep and circadian disruption. This study aimed to evaluate the relationship between sleep and work characteristics and the antibody response to the mRNA SARS-CoV-2 vaccine BNT162b2.