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Glossary Epidermolysis Bullosa Simplex

genetic disorder causing fragile skin that blisters easily

Epidermolysis Bullosa Simplex (EBS) is a genetic skin disorder characterized by fragile skin that easily blisters, especially in response to minor injuries or friction. This condition occurs due to mutations in genes responsible for producing keratin proteins, which are essential for skin integrity.

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research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility

189 citations , July 2009 in “The Journal of clinical investigation/The journal of clinical investigation”

This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.

research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex

40 citations , November 2021 in “International Journal of Molecular Sciences”

This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.

research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case

26 citations , June 2004 in “Clinical Genetics”

This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.

research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

18 citations , January 2018 in “BMC dermatology”

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

14 citations , May 2017 in “Journal of Investigative Dermatology”

This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.

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