2f:I[703058,["/_next/static/immutable/chunks/3bhq_5eh1d760.js","/_next/static/immutable/chunks/1855-ogyi8eh4.js","/_next/static/immutable/chunks/2pfsjpn6k6zlg.js","/_next/static/immutable/chunks/26c7v3_3uwnwu.js","/_next/static/immutable/chunks/25a3ozcrvi1ff.js","/_next/static/immutable/chunks/2r4wx50nvjh_4.js","/_next/static/immutable/chunks/23fsw06hsi5b1.js","/_next/static/immutable/chunks/06_yt270h41rg.js","/_next/static/immutable/chunks/3ezsiz-7shkna.js","/_next/static/immutable/chunks/20x2y96ldu5wx.js","/_next/static/immutable/chunks/2lxntcm3pd1_h.js","/_next/static/immutable/chunks/00dgco8irq3jw.js","/_next/static/immutable/chunks/00nwe-kq0rboc.js","/_next/static/immutable/chunks/2051ffx3xzio9.js"],"PaperListPageClient"] 30:T72d,Recessive dystrophic epidermolysis bullosa (RDEB) is an epithelial fragility disease primarily affecting the skin and caused by variants in the COL7A1 gene. Individuals with RDEB are predisposed to develop highly aggressive cutaneous squamous cell carcinomas (SCC) which represent the most common cause of premature death. There is a lack of effective prevention or treatment options for patients with RDEB-SCC. To evaluate the anti-tumor activity and safety of the polo-like kinase-1 (PLK1) inhibitor, rigosertib, two investigator initiated open-label, single arm phase 2 studies were opened in Europe and the United States and enrolled five RDEB patients diagnosed with locally advanced and/or metastatic SCCs that had failed prior standard of care. Using a common protocol, patients were offered either oral or intravenous administration of rigosertib with consultation from the treating physician. Patients were monitored with clinical photography, biopsy, PET-CT scans and quality of life questionnaires over the 12 months duration of the trial. Pharmacokinetics of drug absorption was monitored in 4 patients. Patients on intravenous or oral therapy showed anti-tumor efficacy with acceptable toxicity and two patients had a complete response within six months of treatment. Quality of life was not negatively impacted by treatment and drug absorption exceeded previous patient populations presumably due to the relatively high dosing in an underweight patient cohort. These data identify rigosertib as a promising drug therapy for RDEB-SCC where there is a substantial unmet need, absence of approved therapies and where tumors arise on the background of a unique fibrotic and inflammatory environment characterized by germline mutations in COL7A1 that promote development of homogenous primary tumors with aberrant PLK1 activity.31:Tae5,Abstract Background Recessive dystrophic epidermolysis bullosa (RDEB) is an epithelial fragility disease primarily affecting the skin and is caused by variants in the COL7A1 gene. Individuals with RDEB are predisposed to develop highly aggressive cutaneous squamous cell carcinomas (SCCs) which are the most common cause of premature death. There is a lack of effective prevention or treatment options for patients with RDEB-SCC. Objectives To evaluate the antitumour activity and safety of the polo-like kinase-1 (PLK1) inhibitor, rigosertib, two investigator-initiated open-label, single-arm phase II studies were opened in Europe and the USA and enrolled five patients with RDEB diagnosed with locally advanced and/or metastatic SCCs whose disease had not previously responded successfully to standard care. Methods Using a common protocol, patients were offered either oral or intravenous (IV) administration of rigosertib with consultation from the treating physician. Patients were monitored with clinical photography, biopsy, positron emission tomography/computed tomography scans and quality of life (QoL) questionnaires over the 12-month duration of the trial. The pharmacokinetics of drug absorption was monitored in four patients. Results Antitumour efficacy with acceptable toxicity was seen in patients on IV or oral therapy and two patients had a complete response within 6 months of treatment. Their QoL was not negatively impacted by treatment and drug absorption exceeded that seen in previous patient populations presumably due to the relatively high dosing in a cohort of underweight patients. Conclusions These data identify rigosertib as a promising drug therapy for patients with RDEB-SCC where there is a substantial unmet need, absence of approved therapies and where tumours arise on a background of a unique fibrotic and inflammatory environment characterized by germline mutations in COL7A1 that promote the development of homogenous primary tumours with aberrant PLK1 activity. An author video to accompany this article is available online. 25:[[["$","script","0",{"type":"application/ld+json","dangerouslySetInnerHTML":{"__html":"{\"@context\":\"https://schema.org\",\"@type\":\"CollectionPage\",\"name\":\"Recessive Dystrophic Epidermolysis Bullosa: condition Research & Clinical Takeaways\",\"description\":\"Explore peer-reviewed papers on Recessive Dystrophic Epidermolysis Bullosa (condition). Clinician-written summaries and actionable practice insights. 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Summary fields are largely null as a result.","value_numeric":null},{"paper_doi":"10.1001/jamadermatol.2026.3240","tag_type":"warning","value":"Study design label 'Budget Impact Analysis' is a health economics model, not a clinical trial; level of evidence reflects this accordingly.","value_numeric":null},{"paper_doi":"10.1001/jamadermatol.2026.3240","tag_type":"warning","value":"The paper's DOI and publication date (September 9, 2026) are in the future relative to today's date (September 13, 2026), suggesting this is a very recently published article and full-text details may be limited or embargoed.","value_numeric":null}],"summaries":{"what_studied":"This economic evaluation assessed the budget impact of gene therapy for autosomal recessive dystrophic epidermolysis bullosa (RDEB).","limitations":"The abstract provides insufficient detail to assess study methodology, assumptions, time horizon, or specific cost outcomes."}},{"doi":"10.2340/actadv.v106.adv-2026-0385","pmid":"42423360","title":"The Role of RCM and LC-OCT in Genodermatoses Associated with Skin Cancer: A Narrative Review","journal_title":"Acta Dermato-Venereologica","journal_issn":"1651-2057","published_at":"2026-07-09T00:00:00.000Z","url":"https://doi.org/10.2340/actadv.v106.adv-2026-0385","source_score":1,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-07-17T13:24:20.738Z","updated_at":"2026-07-17T13:24:20.738Z","tags":[{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"age_group","value":"mixed","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"category","value":"Dermatology","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"condition","value":"Basal Cell Carcinoma","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"condition","value":"Cutaneous Squamous Cell Carcinoma","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"condition","value":"Familial Atypical Multiple Mole and Melanoma Syndrome","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"condition","value":"Ichthyosis with Confetti","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"condition","value":"Melanoma","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"condition","value":"Nevoid Basal Cell Carcinoma Syndrome","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"condition","value":"Recessive Dystrophic Epidermolysis Bullosa","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"condition","value":"Xeroderma Pigmentosum","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"impact_flag","value":"limited_evidence","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"level_of_evidence","value":"5","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"modality","value":"Dermoscopy","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"modality","value":"Line-Field Confocal Optical Coherence Tomography","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"modality","value":"Reflectance Confocal Microscopy","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"sample_size","value":"n=5","value_numeric":5},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"study_design","value":"Narrative Review with Illustrative Case Series","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"warning","value":"Performance statistics cited (e.g., RCM sensitivity/specificity for BCC, 43.3% reduction in excisions) are drawn from referenced external studies conducted in general populations—not in genodermatosis patients specifically.","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"warning","value":"Study design label 'Narrative Review with Illustrative Case Series' is assigned based on the authors' own description; the case series component is retrospective and non-systematic.","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"warning","value":"The AI-assisted LC-OCT BCC probability tool demonstrated a critical failure in the IWC case (99% BCC prediction for a confirmed pT1a melanoma), underscoring that rare-disease patients are likely absent from AI training datasets.","value_numeric":null},{"paper_doi":"10.2340/actadv.v106.adv-2026-0385","tag_type":"warning","value":"The sample size of 5 cases is very small and selected from 2 specialized tertiary centres; findings may not generalise to community practice settings.","value_numeric":null}],"summaries":{"what_studied":"This narrative review with illustrative case series (5 cases from 2 tertiary referral centres in Italy and Spain) evaluated the role of reflectance confocal microscopy (RCM) and line-field confocal optical coherence tomography (LC-OCT) in managing suspicious skin lesions in patients with genodermatoses associated with high skin cancer risk: NBCCS, RDEB, FAMMM, xeroderma pigmentosum, and ichthyosis with confetti.","key_result":"Adding RCM to dermoscopy raised BCC diagnosis sensitivity from 93.2% to 97.8% and specificity from 51.7% to 86.8% (cited multicentric study, n=1,005 lesions); LC-OCT raised BCC specificity from 37% to 90% vs. dermoscopy alone. In a pivotal RCT of >3,000 patients, RCM reduced unnecessary melanocytic excisions by 43.3%. In the IWC case, the LC-OCT AI misclassified a pT1a melanoma (0.7 mm Breslow) as BCC with 99% probability, highlighting AI limitations in rare, underrepresented populations.","limitations":"- Only 5 illustrative cases are presented; no prospective data in genodermatosis cohorts for RCM/LC-OCT specifically.\n- Performance data cited are from general or transplant populations, not validated in these rare syndromes.\n- AI tools were trained on common lesion datasets and may systematically misclassify lesions in rare genodermatoses (demonstrated by the IWC melanoma/BCC misclassification).","practice_takeaway":"For patients with skin cancer–prone genodermatoses, add RCM (preferred for melanocytic lesions) or LC-OCT (preferred for keratinocyte carcinomas and hyperkeratotic/deeper lesions) as a second-level tool after dermoscopy to cut unnecessary biopsies while catching true malignancies earlier. Do not rely on AI-assisted LC-OCT outputs as independent decision-makers in rare genodermatosis patients, as these populations are likely underrepresented in AI training data."}},{"doi":"10.3389/fimmu.2026.1789537","pmid":"42164509","title":"MesenSistem-EB: systemic haploidentical mesenchymal stem cell therapy in recessive dystrophic epidermolysis bullosa associated with clinical benefits and correlated with MCP1 and sCD40L dynamics","journal_title":"Frontiers in Immunology","journal_issn":"1664-3224","published_at":"2026-05-05T00:00:00.000Z","url":"https://doi.org/10.3389/fimmu.2026.1789537","source_score":64,"is_retracted":false,"is_open_access":true,"raw_metadata":{"pubmed":true,"crossref":true,"unpaywall":true},"created_at":"2026-05-24T13:23:17.939Z","updated_at":"2026-05-24T13:23:17.939Z","tags":[{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"age_group","value":"pediatric","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"category","value":"Immunology","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"condition","value":"Recessive Dystrophic Epidermolysis Bullosa","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"generic","value":"haploidentical bone marrow-derived mesenchymal stromal cells","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"impact_flag","value":"limited_evidence","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"level_of_evidence","value":"3","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"modality","value":"Mesenchymal Stem Cell Therapy","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"sample_size","value":"n=8","value_numeric":8},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"sex","value":"mixed","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"study_design","value":"Phase I/II Open-Label Clinical Trial","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"warning","value":"Level of evidence assigned as 3 (small Phase I/II trial without randomization or blinding); could be argued as level 4 given single-arm, single-center design.","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"warning","value":"Open-label design with no placebo arm introduces significant risk of bias in patient-reported outcome assessments.","value_numeric":null},{"paper_doi":"10.3389/fimmu.2026.1789537","tag_type":"warning","value":"Sample size is very small (n=8 completers), limiting statistical power and generalizability. Results should be interpreted as preliminary.","value_numeric":null}],"summaries":{"what_studied":"Phase I/II open-label trial (NCT04153630) evaluating 3 intravenous infusions of haploidentical bone marrow-derived MSC (2–3×10⁶ cells/kg, 21-day intervals) as monotherapy in 8 children with severe RDEB, with safety, clinical outcomes, patient-reported outcomes, systemic inflammatory mediators, and immune profiles assessed over 12 months.","key_result":"No serious adverse events occurred; 7/8 patients improved in at least one key domain (disease severity, pruritus, or inflammation), with 5 classified as good responders. CRP and fibrinogen remained globally stable; responses correlated with MCP1 and sCD40L dynamics. Durable engraftment and sustained type VII collagen deposition were not consistently achieved.","limitations":"Very small sample (n=8 completers), single-center, open-label design without a placebo control arm; one patient withdrew due to COVID-19. No consistent durable engraftment or sustained C7 deposition limits conclusions about disease modification.","practice_takeaway":"Haploidentical BM-MSC infusions appear safe and may reduce pruritus, fatigue, and systemic inflammation in children with severe RDEB, making them a potential complementary anti-inflammatory strategy. MCP1 and sCD40L may serve as predictive biomarkers to identify likely responders before treatment."}},{"doi":"10.1093/bjd/ljaf205","pmid":"40439508","title":"Efficacy and safety of rigosertib in patients with recessive dystrophic epidermolysis bullosa-associated advanced/metastatic cutaneous squamous cell carcinoma","journal_title":"British Journal of Dermatology","journal_issn":"0007-0963","published_at":"2025-05-29T00:00:00.000Z","url":"https://doi.org/10.1093/bjd/ljaf205","source_score":45,"is_retracted":false,"is_open_access":true,"raw_metadata":{"ooir":{"day":"2025-06-27","doi":"10.1093/bjd/ljaf205","days":"30","issn":"0007-0963","rank":"5","field":"Clinical Medicine","score":"45","category":"Dermatology","categories":["Dermatology"],"_categories":["Dermatology"]},"pubmed":{"doi":"10.1093/bjd/ljaf205","title":"Efficacy and Safety of Rigosertib in Patients with Recessive Dystrophic Epidermolysis Bullosa Associated Advanced/Metastatic Cutaneous Squamous Cell Carcinoma.","journal":"The British journal of dermatology","methods":"","results":"Patients on intravenous or oral therapy showed anti-tumor efficacy with acceptable toxicity and two patients had a complete response within six months of treatment. Quality of life was not negatively impacted by treatment and drug absorption exceeded previous patient populations presumably due to the relatively high dosing in an underweight patient cohort.","abstract":"$30","keywords":[],"pubmed_id":"40439508","conclusions":"","publication_date":"2025-05-29T00:00:00"},"crossref":{"DOI":"10.1093/bjd/ljaf205","URL":"https://doi.org/10.1093/bjd/ljaf205","ISSN":["0007-0963","1365-2133"],"link":[{"URL":"https://academic.oup.com/bjd/advance-article-pdf/doi/10.1093/bjd/ljaf205/63398152/ljaf205.pdf","content-type":"application/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https://academic.oup.com/bjd/advance-article-pdf/doi/10.1093/bjd/ljaf205/63398152/ljaf205.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"page":null,"type":"journal-article","issue":null,"score":1,"title":["Efficacy and safety of rigosertib in patients with recessive dystrophic epidermolysis 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,"}]},{"given":"Lauren","family":"Banner","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology, Thomas Jefferson University , Philadelphia, PA ,"}]},{"given":"Michael","family":"Alexander","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Physiology and Cancer Biology, Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA ,"}]},{"given":"Linda","family":"Hosler","sequence":"additional","affiliation":[{"name":"Jefferson Clinical Research Institute, Sidney Kimmel Medical College, Thomas Jefferson University , Philadelphia, PA ,"}]},{"given":"Henry","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology, Thomas Jefferson University , Philadelphia, PA ,"}]},{"given":"Matthew","family":"Parris","sequence":"additional","affiliation":[{"name":"Onconova Therapeutics Inc. , Newtown, PA ,"}]},{"given":"Meena","family":"Arora","sequence":"additional","affiliation":[{"name":"Onconova Therapeutics Inc. , Newtown, PA ,"}]},{"given":"Georg","family":"Zimmermann","sequence":"additional","affiliation":[{"name":"Department of Artificial Intelligence and Human Interfaces, Faculty of Digital and Analytical Sciences, Paris Lodron University Salzburg ,"},{"name":"Research Programme Biomedical Data Science, Paracelsus Medical University , Salzburg ,"},{"name":"Team Biostatistics and Big Medical Data, IDA Lab Salzburg, Paracelsus Medical University , Salzburg ,"}]},{"given":"Gregor","family":"Schweighofer-Zwink","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine and Endocrinology, University Hospital of the Paracelsus Medical University , Salzburg ,"}]},{"given":"Johann W","family":"Bauer","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology and EB House Austria, University Hospital of the Paracelsus Medical 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Treatment showed anti-tumor activity with acceptable toxicity, quality of life was not negatively affected, and drug absorption exceeded prior populations.","limitations":"Extremely small sample (n=5) and uncontrolled, open-label design without a comparator. Heterogeneous administration (oral vs IV), and pharmacokinetics were assessed in only four patients.","practice_takeaway":"Rigosertib produced signals of efficacy with tolerable safety in RDEB-associated advanced/metastatic cutaneous SCC after standard care failure, including two complete responses by six months. Given the tiny, uncontrolled dataset, this remains investigational and needs confirmation in larger controlled studies."}}],"initialOffset":4,"fetchConfig":{"kind":"tags","tags":[{"tag_type":"condition","value":"Recessive Dystrophic Epidermolysis Bullosa"}]},"breadcrumbItems":[{"name":"Home","href":"/"},{"name":"Research Hub","href":"/hub"},{"name":"Conditions","href":"/hub/tag/condition"},{"name":"Recessive Dystrophic Epidermolysis Bullosa"}],"hrefConfig":{"basePath":"/hub/papers","webViewQueryParams":{"hub_ctx":"tag","hub_tag_type":"condition","hub_tag_value":"Recessive Dystrophic Epidermolysis Bullosa"}}}]]

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