Congenital epidermolysis bullosa: A review

C. Siañez-González; R. Pezoa-Jares; J. C. Salas-Alanis

doi:10.1016/S1578-2190(09)70554-2

Congenital epidermolysis bullosa: A review

C. Siañez-González, R. Pezoa-Jares, J. C. Salas-Alanis

Research output: Contribution to journal › Literature review › peer-review

17 Citations (Scopus)

Abstract

Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17 000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapies are currently under investigation. This review covers aspects of the molecular biology, clinical presentation, diagnosis, and treatment of epidermolysis bullosa relevant to improving the care for affected patients.

Original language	English
Pages (from-to)	842-856
Number of pages	15
Journal	Actas Dermo-Sifiliograficas
DOIs	https://doi.org/10.1016/S1578-2190(09)70554-2
Publication status	Published - 1 Jan 2009
Externally published	Yes

All Science Journal Classification (ASJC) codes

Pathology and Forensic Medicine
Histology
Dermatology

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10.1016/S1578-2190(09)70554-2

https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=73849120679&origin=inward

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abstract = "Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17 000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapies are currently under investigation. This review covers aspects of the molecular biology, clinical presentation, diagnosis, and treatment of epidermolysis bullosa relevant to improving the care for affected patients.",

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AB - Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17 000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapies are currently under investigation. This review covers aspects of the molecular biology, clinical presentation, diagnosis, and treatment of epidermolysis bullosa relevant to improving the care for affected patients.

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