Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders

Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders Publisher Pubmed

Vahidnezhad H^{1, 2, 3} ; Youssefian L^{1, 3, 4, 5} ; Saeidian AH^{1, 3, 5} ; Uitto J^{1, 3}

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1. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, United States
2. Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
3. Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, United States
4. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
5. Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, PA, United States

Source: Journal of Investigative Dermatology Published:2019

Abstract

The heritable forms of epidermolysis bullosa (EB), a phenotypically heterogeneous group of skin fragility disorders, is currently associated with mutations in as many as 21 distinct genes. EB is primarily a disorder affecting the epithelial layers of skin and mucous membranes, without extracutaneous manifestations, and thus is nonsyndromic. However, recent demonstrations of skin blistering in multisystem disorders with single gene defects highlight the concept of syndromic EB. Here, we review the phenotypic and genotypic features of syndromic forms of EB to delineate the concept of syndromic versus nonsyndromic skin fragility disorders. © 2018 The Authors

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Style	Citing Format
MLA	Vahidnezhad H, et al.. "Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders." Journal of Investigative Dermatology, vol. 139, no. 3, 2019, pp. 522-527.
APA	Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J (2019). Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders. Journal of Investigative Dermatology, 139(3), 522-527.
Chicago	Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J. "Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders." Journal of Investigative Dermatology 139, no. 3 (2019): 522-527.
Harvard	Vahidnezhad H et al. (2019) 'Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders', Journal of Investigative Dermatology, 139(3), pp. 522-527.
Vancouver	Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J. Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders. Journal of Investigative Dermatology. 2019;139(3):522-527.
BibTex	@article{ author = {Vahidnezhad H and Youssefian L and Saeidian AH and Uitto J}, title = {Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders}, journal = {Journal of Investigative Dermatology}, volume = {139}, number = {3}, pages = {522-527}, year = {2019} }
RIS	TY - JOUR AU - Vahidnezhad H AU - Youssefian L AU - Saeidian AH AU - Uitto J TI - Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders JO - Journal of Investigative Dermatology VL - 139 IS - 3 SP - 522 EP - 527 PY - 2019 ER -

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