About 305 results

ALLMedicine™ Epidermolysis Bullosa Simplex Center

Research & Reviews  110 results

Kinase inhibition by PKC412 prevents epithelial sheet damage in autosomal dominant epid...
The Journal of Investigative Dermatology; Rietscher K, Jahnke HG et. al.

Jun 13th, 2022 - Epidermolysis bullosa simplex (EBS) is a severe and potentially life-threatening disorder for which no adequate therapy exists. Most cases are caused by dominant mutations in keratins KRT5 or KRT14, leading to the formation of cytoplasmic keratin ...

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A...
American Journal of Medical Genetics. Part A; Vishwanathan GB, Srinivasa M et. al.

May 18th, 2022 - Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied cl...

Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify a...
The Journal of Investigative Dermatology; Coutier J, Bonnette M et. al.

May 2nd, 2022 - Epidermolysis bullosa simplex (EBS), an autosomal dominant skin disorder, is characterized by skin fragility. Genetically, the majority of cases are related to missense sequence variations in two keratin genes K5 or K14, leading to cytolysis of ba...

Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient Wi...
JAMA Dermatology; Martínez-Santamaría L, Maseda R et. al.

Mar 3rd, 2022 - Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is an autosomal recessive disorder caused by pathogenic variants in PLEC1, which encodes plectin. It is characterized by mild mucocutaneous fragility and blistering and muscle weakness...

Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of...
The Journal of Investigative Dermatology; Vermeer MCSC, Silljé HHW et. al.

Jan 16th, 2022 - Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.|2022|Vermeer MCSC,Silljé HHW,Pas HH,Andrei D,van der Meer P,|

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Clinicaltrials.gov  2 results

To Evaluate the Pharmacokinetic of Diacerein and Rhein After Maximum Use in Patients With Epidermolysis Bullosa (EB)

Feb 10th, 2020 - This was an open-label, single-period study that intended to include subjects with EB consisting of infants/ children (ages 6 months to 11 years, inclusive) and adolescents/ adults (ages 12 years and older). The study included 2 cohorts. Cohort 1 ...

A Double-blind, Intra-individual Comparison, POC Trial of AC-203 in EB Patients

Apr 16th, 2019 - Inherited epidermolysis bullosa (EB) is a genetic skin disorder characterized by skin fragility and recurrent blister formation. More and more evidence has suggested that the skin lesions initially caused by genetic mutations may be further aggrav...

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News  9 results

Progressive Axillary Hyperpigmentation
Spyros M. Siscos, MD, Jace Rickstrew, MD et. al.

Jul 7th, 2021 - The Diagnosis: Dowling-Degos Disease Histopathology demonstrated elongation of the epidermal rete ridges with increased basal pigmentation, suprapapillary epithelial thinning, dermal melanophages, and a mild lymphocytic infiltrate (Figure). Given.

Target plantar keratoderma when managing ‘mild’ EBS
Sara Freeman

Feb 23rd, 2020 - LONDON – Hardened feet are a major determinant of the clinical course of epidermolysis bullosa simplex (EBS), according to research presented by a German team of investigators at the EB World Congress. In a study of 157 individuals with EBS, 75.

Bothersome Blisters: Localized Epidermolysis Bullosa Simplex
Lisa Hisaw, MD, Olivia Twu, MD, PhD et. al.

Apr 4th, 2019 - To the Editor: Epidermolysis bullosa (EB) was first described in 1886, with the first classification scheme proposed in 1962 utilizing transmission electron microscopy (TEM) findings to delineate categories: epidermolytic (EB simplex [EBS]), lucid.

A New Treatment Option for Epidermolysis Bullosa Simplex

Jul 10th, 2018 - Amy Paller, MD Walter J. Hamlin Professor and Chair, Department of Dermatology, and Professor of Pediatrics Director, Northwestern University Skin Disease Research Center (SDRC) Northwestern University Feinberg School of Medicine Chicago, Illinois.

Study confirms new mutation, possible therapeutic target in epidermolysis bullosa
Amy Karon

May 26th, 2017 - PORTLAND, ORE. – New research has uncovered “a new kid on the block” of genes underlying epidermolysis bullosa simplex (EBS), which may someday pave the way for new therapies, John McGrath, MD, said at the annual meeting of the Society for Investi.

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Patient Education  1 results see all →