Dowling-Meara Epidermolysis Bullosa Simplex Latest Advances

Genetic analysis of a Chinese pedigree affected with Epidermolysis bullosa simplex due to a novel variant of KRT5 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 26, 2025

Multicentre phase II open study assessing the efficacy and safety of apremilast in children and adults with epidermolysis bullosa simplex generalised: study protocol for the EBULO study.

Journal: BMJ open

Published: November 12, 2025

Development and Validation of a Scale to Assess Epidermolysis Bullosa Simplex Severity.

Journal: JAMA dermatology

Published: October 15, 2025

The p.Asn176Ser Variant of KRT5 at the Heptad "e" Position of the Helix Initiation Motif Causes Severe Epidermolysis Bullosa Simplex.

Journal: The Journal of dermatology

Published: July 24, 2025

Epidermolysis Bullosa Related to the KLHL24 Gene: A Rare Pediatric Manifestation of Arrhythmogenic Cardiomyopathy.

Journal: JACC. Case reports

Published: July 11, 2025

Cleft Lip and Palate Repairs in a Patient With Epidermolysis Bullosa Simplex.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: June 25, 2025

Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum?

Journal: Acta dermato-venereologica

Published: June 19, 2025

Clinical and genetic study of a family with epidermolysis bullosa simplex caused by a novel KRT5 gene mutation c.987C>G (p.Asn329Lys).

Journal: Intractable & rare diseases research

Published: June 01, 2025

Tissue-Selective Effects of PLEC Isoform Deficiency: Insights From A Muscle Only Phenotype.

Journal: Muscle & nerve

Published: May 08, 2025

Recessive epidermolysis bullosa simplex due to EXPH5 variants: case series of a rare subtype with multiple faces.

Journal: The British journal of dermatology

Published: April 30, 2025

Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype-Phenotype Correlation in Nine Cases.

Journal: The Journal of dermatology

Published: April 25, 2025

Consequences of plectin ablation on the various intermediate filament systems in skeletal muscle.

Journal: European journal of cell biology

Published: March 07, 2025