Death from Metastatic, Cutaneous, Squamous Cell Carcinoma in Autosomal Recessive Dystrophic Epidermolysis bullosa despite Permanent Inpatient Care

Dermatology ◽  
1988 ◽  
Vol 177 (3) ◽  
pp. 180-184 ◽  
Author(s):  
M. Keefe ◽  
R.A. Wakeel ◽  
D.C. Dick
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Epidermolysis Bullosa ◽  
Inpatient Care ◽  
Autosomal Recessive ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa

scholarly journals A CASE REPORT OF AGGRESSIVE SQUAMOUS CELL CARCINOMA IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

2020 ◽  
Vol 66 (5) ◽  
pp. 556-562
Author(s):  
A. Kubanov ◽  
Arfenya Karamova ◽  
Vadim Chikin ◽  
Yekaterina Monchakovskaya ◽  
M. Nefedova
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Epidermolysis Bullosa ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Early Mortality ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Healing Wounds ◽  
Col7a1 Gene

Recessive dystrophic epidermolysis bullosa (RDEB) is an orphan genetic skin disease which is caused by mutations in COL7A1 gene. COL7A1 encodes collagen VII - a major component of anchoring fibrils which sustain the dermal-epidermal junction. Non-healing wounds typically are presented in patients with RDEB. They predispose cutaneous squamous cell carcinoma (SCC) development. RDEB-associated SCC is a rapidly growing tumor of aggressive nature which generally arises at young age and results in early mortality. This article reports 2 patients with RDEB-associated SCCs.

scholarly journals Treatment with Immunotherapy and Other Systemic Therapies for Patients With Recessive Dystrophic Epidermolysis Bullosa and Cutaneous Squamous Cell Carcinoma. A Single Institution Experience

2021 ◽  
Author(s):  
David Viñal ◽  
Sara Martinez-Fdez ◽  
Lorena Ostios-Garcia ◽  
Rocio Maseda ◽  
Raul De Lucas ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Epidermolysis Bullosa ◽  
Tumor Response ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Serious Adverse Events ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Systemic Therapies

Abstract Purpose. Cutaneous squamous cell carcinoma (CSCC) is a frequent complication in patients with recessive dystrophic epidermolysis bullosa (RDEB). Immunotherapy is a novel treatment approach for CSCC, however there is little experience in patients with RDEB. Methods. We included all the patients with a molecular-confirmed diagnosis of RDEB and advanced CSCC treated with systemic therapy between November 1988 and January 2021. Results. Five patients were treated with immunotherapy (n=2), other systemic therapies (n=2), or both (n=1). The tolerability of immunotherapy was overall acceptable with no treatment-related serious adverse events. Radiological tumor response observed in one patient. The other patients were treated with a combination of chemotherapy and targeted therapy (EGFR inhibitors), with mixed tumor response. Median OS was 3 months (range, 1 to 11). Conclusions: Patients with RDEB and advanced CSCC benefit from immunotherapy and do not experience unexpected toxicity.

scholarly journals Reprogramming and Differentiation of Cutaneous Squamous Cell Carcinoma Cells in Recessive Dystrophic Epidermolysis Bullosa

2020 ◽  
Vol 22 (1) ◽  
pp. 245
Author(s):  
Avina Rami ◽  
Łukasz Łaczmański ◽  
Jagoda Jacków-Nowicka ◽  
Joanna Jacków
Keyword(s):  
Gene Expression ◽  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Epidermolysis Bullosa ◽  
Expression Profiles ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Rapid Progression ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa

The early onset and rapid progression of cutaneous squamous cell carcinoma (cSCC) leads to high mortality rates in individuals with recessive dystrophic epidermolysis bullosa (RDEB). Currently, the molecular mechanisms underlying cSCC development in RDEB are not well understood and there are limited therapeutic options. RDEB-cSCC arises through the accumulation of genetic mutations; however, previous work analyzing gene expression profiles have not been able to explain its aggressive nature. Therefore, we generated a model to study RDEB-cSCC development using cellular reprograming and re-differentiation technology. We compared RDEB-cSCC to cSCC that were first reprogrammed into induced pluripotent stem cells (RDEB-cSCC-iPSC) and then differentiated back to keratinocytes (RDEB-cSCC-iKC). The RDEB-cSCC-iKC cell population had reduced proliferative capacities in vitro and in vivo, suggesting that reprogramming and re-differentiation leads to functional changes. Finally, we performed RNA-seq analysis for RDEB-cSCC, RDEB-cSCC-iPSC, and RDEB-cSCC-iKC and identified different gene expression signatures between these cell populations. Taken together, this cell culture model offers a valuable tool to study cSCC and provides a novel way to identify potential therapeutic targets for RDEB-cSCC.

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