Type VII Collagen Deficiency in the Oncogenesis of Cutaneous Squamous Cell Carcinoma in Dystrophic Epidermolysis Bullosa

被引：6

作者：

South, Andrew P. ^{[1
,11
]}

Laimer, Martin ^{[2
,3
]}

Gueye, Mouhamed ^{[4
]}

Sui, Jennifer Y. ^{[5
,6
]}

Eichenfield, Lawrence F. ^{[5
,6
]}

Mellerio, Jemima E. ^{[7
]}

Nystrom, Alexander ^{[8
,9
,10
]}

机构：

[1] Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA

[2] Paracelsus Med Univ, Univ Hosp, Dept Dermatol & Allergol, Salzburg, Austria

[3] Univ Hosp, Paracelsus Med Univ, EB House Austria, Salzburg, Austria

[4] Krystal Biotech, Pittsburgh, PA USA

[5] Univ Calif San Diego, Dept Dermatol, Sch Med, San Diego, CA USA

[6] Univ Calif San Diego Sch Med, Dept Pediat, San Diego, CA USA

[7] Rady Childrens Hosp San Diego, Div Pediat Dermatol, San Diego, CA USA

[8] Guys & St Thomas NHS Fdn trust, St Johns Inst Dermatol, London, England

[9] Univ Freiburg, Med Fac, Med Ctr, Dept Dermatol, Freiburg, Germany

[10] Freiburg Inst Adv Studies, Freiburg, Germany

[11] Thomas Jefferson Univ, Dermatol & Cutaneous Biol, Sidney Kimmel Med Coll, 233 S 10th St 406 BLSB, Philadelphia, PA 19107 USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2023年 / 143卷 / 11期

关键词：

FIBROBLAST-GROWTH-FACTOR; NATIONAL-EB-REGISTRY; TGF-BETA; SKIN-CANCER; T-CELLS; PROGRESSION; PREVALENCE; MECHANISMS; EXPERIENCE; MUTATIONS;

D O I：

10.1016/j.jid.2023.05.024

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Dystrophic epidermolysis bullosa is a rare genetic skin disorder caused by COL7A1 sequence variations that result in type VII collagen deficits and cutaneous and extracutaneous manifestations. One serious complication of dystrophic epidermolysis bullosa is cutaneous squamous cell carcinoma, a leading driver of morbidity and mortality, especially among patients with recessive dystrophic epidermolysis bullosa. Type VII collagen deficits alter TGFb signaling and evoke multiple other cutaneous squamous cell carcinoma progression-promoting activities within epidermal microenvironments. This review examines cutaneous squamous cell carcinoma pathophysiology in dystrophic epidermolysis bullosa with a focus on known oncogenesis pathways at play and explores the idea reduce cutaneous squamous cell carcinoma risk.

引用

页码：2108 / 2119

页数：12

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