scholarly journals Maintenance Hemodialysis Using Native Arteriovenous Fistula in a Patient with Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

2016 ◽  
Vol 6 (2) ◽  
pp. 96-100 ◽  
Author(s):  
Takayasu Ito ◽  
Eiji Ishikawa ◽  
Hiroshi Matsuo ◽  
Mika Fujimoto ◽  
Tomohiro Murata ◽  
...  
Keyword(s):  
Arteriovenous Fistula ◽  
Epidermolysis Bullosa ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Maintenance Hemodialysis ◽  
End Stage Kidney Disease ◽  
Term Survival ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
End Stage

Renal failure and infectious disease are strongly associated with morbidity and mortality in patients with severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen). However, it is reportedly difficult to introduce hemodialysis with an arteriovenous fistula (AVF). We encountered a 32-year-old man with RDEB-sev gen in whom hemodialysis with a native AVF was introduced that favorably affected his long-term survival. This patient eventually died because of cachexia related to the recurrence of cutaneous squamous cell carcinoma 51 months after hemodialysis introduction. We believe that in this patient, the frequency of vascular access troubles related to infection or reduction of blood flow was probably low as a result of hemodialysis with his native AVF. Thus, it seems likely that patients with RDEB-sev gen with end stage kidney disease who are on hemodialysis can be successfully managed with a native AVF.

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.

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