Large metastasizing squamous cell carcinoma in epidermolysis bullosa dystrophica Hallopeau‐Siemens

Süß, Anke; Sticherling, Michael; Völz, Andreas; Frank, Roman; Rudolph, K-D; Simon, J. C.

doi:10.1111/j.1468-3083.2006.01938.x

Cited by 4 publications

(1 citation statement)

References 5 publications

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“…CT imaging detected metastases in 7 cases (43.8%), in which three showed loco-regional metastases in axillary and/or clavicular lymph nodes [ 18 , 28 ]. Visceral metastases were detected in the lungs in four cases [ 17 , 32 , 36 , 37 ]. In the remaining nine cases, imaging was negative [ 28 , 30 , 31 , 35 , 38 – 40 ].…”

Section: Resultsmentioning

confidence: 99%

Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases

Hwang,

Kwon,

Miller

et al. 2024

Orphanet J Rare Dis

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Background Invasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB), a rare blistering genodermatosis. Outcomes of RDEB-cSCC therapies have primarily been described in case reports. Systematic studies are scarce. This systematic review aims to assess the pathophysiology, clinical characteristics, and outcomes of RDEB-cSCCs, with a focus on results and mechanisms of recent immunotherapies and anti-EGFR treatments. Results A systematic literature search of epidermolysis bullosa and cSCC was performed in February 2024, using PubMed, Embase, Cochrane Central Register of Controlled Trials, ClinicalTrials.gov, and EudraCT databases. Cases with administration of systematic therapies and unpublished outcomes regarding death were tracked with corresponding authors. Data extraction and risk of bias assessment was performed by two independent reviewers. Of 1132 references in the original search, 163 relevant articles were identified, representing 59 case reports, 7 cohort studies, 49 abstracts, 47 in-vitro/in-vivo experiments, and 1 bioinformatic study. From these, 157 cases of RDEB-cSCCs were included. The majority of RDEB-cSCCs were well-differentiated (64.1%), ulcerated (59.6%), and at least 2 cm in size (77.6%), with a median age at diagnosis of 30 years old (range 6–68.4). Surgery was the primary form of treatment (n = 128), followed by chemotherapy and radiotherapy. Anti-EGFR therapy and immunotherapy was also reported beginning in 2009 and 2019, respectively. Survival time from first cSCC diagnosis to death was available in 50 cases. When stratified by their treatment regimen, median survival time was 1.85 years (surgery + chemotherapy, n = 6), 2 years (surgery only, n = 19), 4.0 years (+ anti-EFGR therapy, n = 10), 4 years (surgery + radiotherapy, n = 9), 4.6 years (+ immunotherapy, n = 4), and 9.5 years (surgery + chemotherapy + radiotherapy; n = 2). Treatment-related adverse events were primarily limited to impaired wound healing for immunotherapies and nausea and fatigue for anti-EGFR therapies. Conclusions Despite the challenges of a limited sample size in a rare disease, this systematic review provides an overview of treatment options for cSCCs in RDEB. When surgical treatment options have been exhausted, the addition of immunotherapy and/or anti-EGFR therapies may extend patient survival. However, it is difficult to attribute extended survival to any single treatment, as multiple therapeutic modalities are often used to treat RDEB-cSCCs.

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Section: Resultsmentioning

confidence: 99%

Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases

Hwang,

Kwon,

Miller

et al. 2024

Orphanet J Rare Dis

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31 Tumors of the epidermis

2010

Weedon's Skin Pathology

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Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines

et al. 2015

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SummaryThis article summarizes recommendations reached following a systematic literature review and expert consensus on the diagnosis and management of cutaneous squamous cell carcinomas in people with epidermolysis bullosa. The guidelines are intended to help inform decision making by clinicians dealing with this complex complication of a devastating disease.What's already known about this topic?• Some subtypes of epidermolysis bullosa (EB), particularly severe generalized recessive dystrophic EB, are associated with the development of mucocutaneous squamous cell carcinomas (SCCs).• These tumours behave aggressively and are a leading cause of morbidity and mortality in at-risk patients with EB.What does this study add?• These guidelines will assist clinicians in the diagnosis, management and staging of EB-associated cutaneous SCCs based on available evidence and expert consensus.• They highlight the importance of a holistic multidisciplinary approach to the management of EB-associated SCCs, where patient involvement in decision making is paramount.

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Large metastasizing squamous cell carcinoma in epidermolysis bullosa dystrophica Hallopeau‐Siemens

Cited by 4 publications

References 5 publications

Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases

Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases

31 Tumors of the epidermis

Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines

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