Skin fragility

INTRODUCTION: The standard surgical procedure for unstable ankle fractures is fixation of the lateral malleolus with a plate and screws. This method has a high risk of complications, especially among patients with fragile skin conditions. The aim of this study was to estimate the re-operation rates and identify complications in patients with an unstable ankle fracture, surgically treated with an intramedullary screw or rush pin. MATERIALS AND METHODS: We identified all patients who were surgically treated with either a 3...

BACKGROUND: Epidermolysis bullosa (EB), characterized by skin fragility and blistering, often requires hospitalization. Training for inpatient management of EB is limited, with no unified recommendations available in North America. OBJECTIVE: To develop consensus-derived best practices for hands-on inpatient management of EB in both the neonatal and post-neonatal period. METHODS: A modified Delphi method (expert-based input via two surveys and a final review) was implemented...

Autoimmune diseases often arise from conditions where the immune system is compromised. While lymphopenia-induced proliferation (LIP) is crucial for immune system development and maturation, it is also caused by environmental insult, such as infection and becomes a risk factor for autoimmunity in adults. We used Dsg3H1 TCR Transgenic mice, whose T cells are designed to recognize desmogrein-3, a skin antigen, to explore the impact of lymphopenia on post-thymic tolerance. Dsg3H1 mice are known to delete the most highly autoreactive T cells in thymus, and develop only subtle immune-mediated pathology in a steady state...

Epidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally casting a profound impact on the lives of affected individuals...

BACKGROUND: As the population ages, the rates of hip diseases and fragility fractures are increasing, making total hip arthroplasty (THA) one of the best methods for treating elderly patients. With the increasing number of THA surgeries and diverse surgical methods, there is a need for standard evaluation protocols. This study aimed to use deep learning algorithms to classify THA videos and evaluate the accuracy of the labelling of these videos. METHODS: In our study, we manually annotated 7 phases in THA, including skin incision, broaching, exposure of acetabulum, acetabular reaming, acetabular cup positioning, femoral stem insertion, and skin closure...

(1) Mesenchymal stem cells (MSCs) are a valuable cell model to study the bone pathology of Osteogenesis Imperfecta (OI), a rare genetic collagen-related disorder characterized by bone fragility and skeletal dysplasia. We aimed to generate a novel OI induced mesenchymal stem cell (iMSC) model from induced pluripotent stem cells (iPSCs) derived from human dermal fibroblasts. For the first time, OI iMSCs generation was based on an intermediate neural crest cell (iNCC) stage. (2) Skin fibroblasts from healthy individuals and OI patients were reprogrammed into iPSCs and subsequently differentiated into iMSCs via iNCCs...

Background and Objectives: Burn surgery on the hands is a difficult procedure due to the complex anatomy and fragility of the area. Enzymatic debridement has been shown to effectively remove burn eschar while minimizing damage to the surrounding tissue and has therefore become a standard procedure in many burn centers worldwide over the past decade. However, surprisingly, our recent literature review showed limited valid data on the long-term scarring after the enzymatic debridement of the hands. Therefore, we decided to present our study on this topic to fill this gap...

Human amniotic membranes (hAMs) are widely used as wound management biomaterials, especially as grafts for corneal reconstruction due to the structure of the extracellular matrix and excellent biological properties. However, their fragile nature and rapid degradation rate hinder widespread clinical use. In this work, we engineered a novel self-powered electronic dress (E-dress), combining the beneficial properties of an amniotic membrane and a flexible electrical electrode to enhance wound healing. The E-dress displayed a sustained discharge capacity, leading to increased epidermal growth factor (EGF) release from amniotic mesenchymal interstitial stem cells...

Desmoplakin (DSP) is a desmosomal component expressed in skin and heart, essential for desmosome stability and intermediate filament connection. Pathogenic variants in the DSP gene encoding DSP, lead to heterogeneous skin, adnexa and heart-related phenotypes, including skin fragility, woolly hair (WH), palmoplantar keratoderma (PPK) and arrhythmogenic/dilated cardiomyopathy (ACM/DCM). The ambiguity of computer-based prediction analysis of pathogenicity and effect of DSP variants, indicates a necessity for functional analysis...

It is unclear if AGEs are involved in the bone fragility of type 1 diabetes (T1D). We evaluated whether skin AGEs by skin autofluorescence and serum AGEs (pentosidine, carboxymethyl-lysine [CML]) are independently associated with BMD by DXA (lumbar spine, hip, distal radius), trabecular bone score (TBS), serum bone turnover markers (BTMs: CTX; P1NP; osteocalcin), and sclerostin in participants with and without T1D. Linear regression models were used, with interaction terms to test effect modification by T1D status...

BACKGROUND: Ehlers-Danlos syndrome (EDS) refers to a group of heritable connective tissue disorders (HCTDs). Clinical hallmarks of EDS include tissue fragility, joint hypermobility, and skin hyperextensibility. One of the consequences of tissue fragility is abnormal wound healing and scar formation, posing potential challenges for surgeons treating these patients. There are limited previous reports of EDS patients undergoing mastectomy and/or breast reconstruction, and none wherein the patient had diagnoses of both vascular EDS (vEDS) and classical EDS (cEDS)...

Epidermolysis bullosa simplex (EBS) is a dermatological condition marked by skin fragility and blister formation resulting from separation within the basal layer of the epidermis, which can be attributed to various genetic etiologies. This study presents three pathogenic de novo variants in young children, with clinical manifestations appearing as early as the neonatal period. The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the Krt14 gene, and indirect effects via pathogenic mutation in the KLHL24 gene, which interfere with the natural proteasome-mediated degradation pathway of KRT14...

Pigmented purpuric dermatoses (PPD) encompass a group of chronic skin conditions characterized by the presence of petechiae, purpura, and pigmentation changes. While generally benign, these dermatoses can be persistent and aesthetically bothersome. Key clinical features include red to brownish patches with a distinctive "cayenne pepper" appearance, predominantly localized on the lower extremities, particularly the shins. Subtypes include Schamberg disease, Majocchi's disease, Gougerot-Blum disease, Ducas and Kapetanakis pigmented purpura, and lichen aureus...

Epidermolysis bullosa (EB) is a rare genetic condition characterized by fragile skin caused by impaired adhesion between the dermis and epidermis. EB is present at or near birth. There is no cure and treatments are supportive. Children with EB are at elevated risk of squamous cell cancer. Under ideal circumstances, EB patients benefit from interdisciplinary care teams who can offer state-of-the-art treatments. In reality and particularly in less-developed nations, care can be limited. In all cases, families dealing with a member with EB face great challenges in caregiving, much of which is managed at home, and incur great financial expenses for dressings, equipment, transportation, and out-of-pocket expenses...

BACKGROUND: Operating on temporal cutaneous tumors is challenging because of the intricate facial nerve system, particularly the frontal branches, and the possibility of brow dysfunction. Surgery for deep margin clearance is difficult because of the fragile and sensitive soft tissue in the temporal region. To address this research gap, this study assessed clearance margins, types of skin tumors, and nerve injuries in this critical anatomical position. This retrospective study assessed temporal skin cancer surgery, malignancy types, and clearance margins in patients with frontal-branch facial nerve injuries...

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing, and altered dermal fibroblast physiology. Using a novel in vitro model of fibrosis based on endogenously produced extracellular matrix, we screened an FDA-approved compound library and identified antivirals as a class of drug not previously associated with anti-fibrotic action. Preclinical validation of our lead hit, daclatasvir, in a mouse model of RDEB demonstrated significant improvement in fibrosis as well as overall quality of life with increased survival, weight gain and activity, and a decrease in pruritus-induced hair loss...

The aging process in the elderly results in heightened skin fragility associated with various disorders, including pressure ulcers (PUs). Despite the high incidence of PUs in the elderly population, there is a limited body of research specifically examining the impact of aging on the development of pressure ulcers. Therefore, investigating age-related physiological abnormalities is essential to elucidate the pathogenesis of PUs. Ischemia-reperfusion (I/R) injury and the subsequent oxidative stress caused by reactive oxygen species (ROS) play essential roles in the early stage of PUs...

In the context of rare genetic diseases caused by nonsense mutations, the concept of induced stop codon readthrough (SCR) represents an attractive avenue in the ongoing search for improved treatment options. Epidermolysis bullosa (EB)-exemplary for this group of diseases-describes a diverse group of rare, blistering genodermatoses. Characterized by extreme skin fragility upon minor mechanical trauma, the most severe forms often result from nonsense mutations that lead to premature translation termination and loss of function of essential proteins at the dermo-epidermal junction...

Epidermolysis bullosa (EB) is a group of rare genetic skin fragility disorders, which are hereditary. These disorders are associated with mutations in at least 16 genes that encode components of the epidermal adhesion complex. Currently, there are no effective treatments for this disorder. All current treatment approaches focus on topical treatments to prevent complications and infections. In recent years, significant progress has been achieved in the treatment of the severe genetic skin blistering condition known as EB through preclinical and clinical advancements...

INTRODUCTION: Pulmonary artery aneurysm (PAA) is a rare abnormality of pulmonary vasculature. It can be idiopathic or secondary to various pathologies, frequently with multiple factors leading to its formation. We report the case of a man with concomitant sarcoidosis and PAA. CASE DESCRIPTION: A 75-year-old male with a diagnosis of pulmonary sarcoidosis was referred to the Cardiology department due to heart failure with reduced left ventricular ejection fraction (LVEF)...