ArticleCase reports in oncology
Induced Remission of Metastatic Squamous Cell Carcinoma with an Immune Checkpoint Inhibitor in a Patient with Recessive Dystrophic Epidermolysis Bullosa.
Article in Case reports in oncology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases.Orphanet journal of rare diseases · 2024Pooled it
- Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa.Orphanet journal of rare diseases · 2022Trial
- The tumor microenvironment of cutaneous squamous cell carcinoma in high-risk patient groups: A scoping review.JID innovations : skin science from molecules to population health · 2026Review
- Review
- Acute Infusion Pain Reaction Due to Anti-PD-1 Antibodies for the Treatment of Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Case Report and Review of the Literature.Case reports in dermatological medicine · 2025Article
- Accelerated Aging and Microsatellite Instability in Recessive Dystrophic Epidermolysis Bullosa-Associated Cutaneous Squamous Cell Carcinoma.The Journal of investigative dermatology · 2024Article
- Article
- Article
- Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa.Acta dermato-venereologica · 2023Article
- Investigational Treatments for Epidermolysis Bullosa.American journal of clinical dermatology · 2021Review
- Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study.Acta dermato-venereologica · 2021Observational
- Impaired Wound Healing, Fibrosis, and Cancer: The Paradigm of Recessive Dystrophic Epidermolysis Bullosa.International journal of molecular sciences · 2021Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis that leads to skin fragility and chronic wound formation. Patients with RDEB are at risk for cutaneous squamous cell carcinoma (SCC) which is a major cause of morbidity and mortality in these patients. No standard of care exists for the treatment of SCC in this patient population and therapy is based on anecdotal reports and expert opinion. We report a 32-year-old man with RDEB with previously localized SCC who later developed metastatic SCC. He was started on cemiplimab (an immune checkpoint inhibitor) 350 mg IV every 3 weeks. An objective radiological response was noted within 3 cycles. On 14 months follow-up, there was a durable response to treatment clinically and on imaging, without immune-related adverse events. To our knowledge, this is the first case report describing safe administration of immune checkpoint inhibitors in a patient with RDEB with objective and durable response of metastatic SCC. Larger case series and controlled clinical trials are needed to further investigate these medications in the RDEB population, given their high burden of aggressive and often lethal SCC.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.