ALLMedicine™ Epidermolysis Bullosa Simplex Center

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 ...

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...

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...

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...

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,|

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 ...

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...

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.

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.

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.

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.

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.