Epidermolysis-bullosa-associated squamous cell carcinomas support an immunosuppressive tumor microenvironment: prospects for immunotherapy

D Rafei-Shamsabadi, L Scholten, S Lu, D Castiglia… - Cancers, 2024 - mdpi.com
Simple Summary Cutaneous squamous cell carcinomas (SCCs) are the most common
tumors in patients suffering from the genetic disorder epidermolysis bullosa (EB). These …

[HTML][HTML] Genetic and environmental factors underlying keratinocyte carcinoma risk

H Choquet, S Ashrafzadeh, Y Kim, MM Asgari… - JCI insight, 2020 - ncbi.nlm.nih.gov
Recent large-scale GWAS and large epidemiologic studies have accelerated the discovery
of genes and environmental factors that contribute to the risk of keratinocyte carcinoma (KC) …

MicroRNA-200b-mediated reversion of a spectrum of epithelial-to-mesenchymal transition states in recessive dystrophic epidermolysis bullosa squamous cell …

J Illmer, R Zauner, J Piñón Hofbauer… - British Journal of …, 2024 - academic.oup.com
Background Cutaneous squamous cell carcinoma (SCC) is the leading cause of death in
patients with recessive dystrophic epidermolysis bullosa (RDEB). However, the survival time …

[HTML][HTML] The relationship between quality of life and coping strategies of children with EB and their parents

PJ Mauritz, M Bolling, JC Duipmans… - Orphanet journal of rare …, 2021 - Springer
Background Epidermolysis bullosa (EB) is a group of rare genetic skin disorders that
primarily manifest as blisters and erosions following mild mechanical trauma. Despite the …

Toward combined cell and gene therapy for genodermatoses

L De Rosa, MC Latella… - Cold Spring …, 2020 - cshperspectives.cshlp.org
To date, more than 200 monogenic, often devastating, skin diseases have been described.
Because of unmet medical needs, development of long-lasting and curative therapies has …

Keratins and epidermolysis bullosa simplex

P Khani, F Ghazi, A Zekri, F Nasri… - Journal of cellular …, 2019 - Wiley Online Library
Keratin intermediate filaments play an important role in maintaining the integrity of the skin
structure. Understanding the importance of this subject is possible with the investigation of …

[HTML][HTML] RSDB: a rare skin disease database to link drugs with potential drug targets for rare skin diseases

TC Kuo, PH Wang, YK Wang, CI Chang, CY Chang… - Scientific Data, 2022 - nature.com
Rare skin diseases include more than 800 diseases affecting more than 6.8 million patients
worldwide. However, only 100 drugs have been developed for treating rare skin diseases in …

Identification of tissue damage, extracellular matrix remodeling and bacterial challenge as common mechanisms associated with high-risk cutaneous squamous cell …

MC Föll, M Fahrner, C Gretzmeier, K Thoma… - Matrix Biology, 2018 - Elsevier
In this study we used a genetic extracellular matrix (ECM) disease to identify mechanisms
associated with aggressive behavior of cutaneous squamous cell carcinoma (cSCC). cSCC …

[HTML][HTML] Type VII collagen deficiency in the oncogenesis of cutaneous squamous cell carcinoma in dystrophic epidermolysis bullosa

AP South, M Laimer, M Gueye, JY Sui… - Journal of Investigative …, 2023 - Elsevier
Dystrophic epidermolysis bullosa is a rare genetic skin disorder caused by COL7A1
sequence variations that result in type VII collagen deficits and cutaneous and …

[HTML][HTML] Cutaneous squamous cell carcinoma in patients with hidradenitis suppurativa

E Racanelli, A Jfri, A Gefri, E O'Brien, IV Litvinov… - Cancers, 2021 - mdpi.com
Simple Summary Cutaneous squamous cell carcinoma (cSCC) is a recognized but
infrequent complication of hidradenitis suppurativa (HS). After performing a thorough …