Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa

Research output: Contribution to journalReview article

Abstract

Individuals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin disease, carry mutations in the COL7A1 gene that codes for type VII collagen, an extracellular matrix component of the basement membrane zone forming the anchoring fibrils. As a consequence, RDEB individuals manifest unremitting skin blistering that evolves into chronic wounds, inflammation, and fibrosis. These features play a central role in the development of more severe disease complications, such as mitten deformities of hands and feet and aggressive epithelial cancers. Despite being recognized as a central clinical issue for RDEB, wound healing impairment has been only marginally investigated. Recently, studies with disease mouse models started to shed light on the molecular mechanisms underlying the altered healing response of RDEB. In turn, alterations found in RDEB skin cell behavior fostered the understanding of mechanisms that may be responsible for defective skin repair. This review summarizes findings related to healing impairment in RDEB, and highlights therapeutic strategies for ameliorating healing.

Original languageEnglish
Pages (from-to)1445-1453
Number of pages9
JournalAmerican Journal of Pathology
Volume187
Issue number7
DOIs
Publication statusPublished - Jul 1 2017

Fingerprint

Epidermolysis Bullosa Dystrophica
Wound Healing
Skin
Genetic Skin Diseases
Hand Deformities
Collagen Type VII
Foot Deformities
Basement Membrane
Extracellular Matrix
Fibrosis
Inflammation
Mutation
Wounds and Injuries
Genes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa. / Cianfarani, Francesca; Zambruno, Giovanna; Castiglia, Daniele; Odorisio, Teresa.

In: American Journal of Pathology, Vol. 187, No. 7, 01.07.2017, p. 1445-1453.

Research output: Contribution to journalReview article

@article{b22d847feb73442eaffd51c633050169,
title = "Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa",
abstract = "Individuals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin disease, carry mutations in the COL7A1 gene that codes for type VII collagen, an extracellular matrix component of the basement membrane zone forming the anchoring fibrils. As a consequence, RDEB individuals manifest unremitting skin blistering that evolves into chronic wounds, inflammation, and fibrosis. These features play a central role in the development of more severe disease complications, such as mitten deformities of hands and feet and aggressive epithelial cancers. Despite being recognized as a central clinical issue for RDEB, wound healing impairment has been only marginally investigated. Recently, studies with disease mouse models started to shed light on the molecular mechanisms underlying the altered healing response of RDEB. In turn, alterations found in RDEB skin cell behavior fostered the understanding of mechanisms that may be responsible for defective skin repair. This review summarizes findings related to healing impairment in RDEB, and highlights therapeutic strategies for ameliorating healing.",
author = "Francesca Cianfarani and Giovanna Zambruno and Daniele Castiglia and Teresa Odorisio",
year = "2017",
month = "7",
day = "1",
doi = "10.1016/j.ajpath.2017.03.003",
language = "English",
volume = "187",
pages = "1445--1453",
journal = "American Journal of Pathology",
issn = "0002-9440",
publisher = "Elsevier Inc.",
number = "7",

}

TY - JOUR

T1 - Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa

AU - Cianfarani, Francesca

AU - Zambruno, Giovanna

AU - Castiglia, Daniele

AU - Odorisio, Teresa

PY - 2017/7/1

Y1 - 2017/7/1

N2 - Individuals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin disease, carry mutations in the COL7A1 gene that codes for type VII collagen, an extracellular matrix component of the basement membrane zone forming the anchoring fibrils. As a consequence, RDEB individuals manifest unremitting skin blistering that evolves into chronic wounds, inflammation, and fibrosis. These features play a central role in the development of more severe disease complications, such as mitten deformities of hands and feet and aggressive epithelial cancers. Despite being recognized as a central clinical issue for RDEB, wound healing impairment has been only marginally investigated. Recently, studies with disease mouse models started to shed light on the molecular mechanisms underlying the altered healing response of RDEB. In turn, alterations found in RDEB skin cell behavior fostered the understanding of mechanisms that may be responsible for defective skin repair. This review summarizes findings related to healing impairment in RDEB, and highlights therapeutic strategies for ameliorating healing.

AB - Individuals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin disease, carry mutations in the COL7A1 gene that codes for type VII collagen, an extracellular matrix component of the basement membrane zone forming the anchoring fibrils. As a consequence, RDEB individuals manifest unremitting skin blistering that evolves into chronic wounds, inflammation, and fibrosis. These features play a central role in the development of more severe disease complications, such as mitten deformities of hands and feet and aggressive epithelial cancers. Despite being recognized as a central clinical issue for RDEB, wound healing impairment has been only marginally investigated. Recently, studies with disease mouse models started to shed light on the molecular mechanisms underlying the altered healing response of RDEB. In turn, alterations found in RDEB skin cell behavior fostered the understanding of mechanisms that may be responsible for defective skin repair. This review summarizes findings related to healing impairment in RDEB, and highlights therapeutic strategies for ameliorating healing.

UR - http://www.scopus.com/inward/record.url?scp=85029947720&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85029947720&partnerID=8YFLogxK

U2 - 10.1016/j.ajpath.2017.03.003

DO - 10.1016/j.ajpath.2017.03.003

M3 - Review article

C2 - 28460207

AN - SCOPUS:85029947720

VL - 187

SP - 1445

EP - 1453

JO - American Journal of Pathology

JF - American Journal of Pathology

SN - 0002-9440

IS - 7

ER -