Esophageal carcinoma in severe recessive dystrophic epidermolysis bullosa—an underestimated complication?

Schwieger‐Briel, Agnes; Trefzer, Laura; Schumann, Hauke; Reimer‐Taschenbrecker, Antonia; Rafei-Samshabadi, David; Meiß, Frank; Has, Cristina

doi:10.1111/jdv.17826

Cited by 4 publications

(7 citation statements)

References 8 publications

(22 reference statements)

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“…1c ). One year after cemiplimab initiation, oesophageal SCC with lymph node metastases was diagnosed ( 17 ). Collagen VII is expressed in mucous membranes making them prone to trauma and squamous cell carcinoma formation.…”

Section: Resultsmentioning

confidence: 99%

“…Collagen VII is expressed in mucous membranes making them prone to trauma and squamous cell carcinoma formation. This tumour responded well to radiotherapy ( 17 ), but the patient succumbed 1 year later at the age of 42 years due to complications including mucositis, scarring, and recurrence of the oesophageal tumour. At the last visit, the cSCC was stable and he had no metastasis.…”

Section: Resultsmentioning

confidence: 99%

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Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa

et al. 2023

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Cutaneous squamous cell carcinoma (cSCC) is a major complication of recessive dystrophic epidermolysis bullosa (RDEB) that has high morbidity and mortality rates and unmet therapeutic needs. The aim of this study was to evaluate the molecular pattern of cSCC and the clinical course of immunotherapy in 2 RDEB patients with multiple advanced cSCC. Clinical course and disease staging were evaluated retrospectively. The tumour tissues were subjected to immunohistochemical staining. DNA from the blood and cSCC samples was subjected to massive parallel sequencing, and somatic mutations were determined. Patient 1 survived for over 2 years as disease control was achieved with cemiplimab and intralesional interleukin-2. The target advanced cSCC demonstrated a high rate of somatic mutations and strong expression of the immune markers, indoleamine 2,3-dioxygenase, programmed cell death protein ligand 1, and lymphocyte-activation gene 3. The patient ultimately succumbed to complications of oesophageal carcinoma. Patient 2 had an undifferentiated cSCC on the foot, which displayed a low mutational burden and did not express immune markers. The tumour progressed quickly even with cemiplimab therapy. These 2 cases underscore the challenges of cSCC treatment for RDEB. Multiple tumours with different molecular and immune profiles occur concomitantly or sequentially, and surgical excision is not always possible because of the anatomical and tissue constraints imposed by the disease itself. In conclusion, programmed cell death protein 1 inhibitors are approved and effective in treating metastatic and locally advanced cSCC. Our experience and the literature suggest that cemiplimab is an option in patients with RDEB if surgery is not. Somatic mutations and the immune microenvironment should be characterized to predict therapeutic response, particularly in aggressive undifferentiated tumours.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa

et al. 2023

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“…Malignant tumors in these regions are highly invasive, often requiring tissue reconstruction, making surgical treatment less feasible than for malignant tumors developing in the skin of the extremities and trunk. In previous reports, surgical intervention was performed only in one patient (Martinez et al, 1992), with the remaining patients opting for non-surgical approaches involving radiotherapy and immunotherapy due to skin fragility and multiple comorbidities (Schwieger-Briel et al, 2022). Currently, survival of patients with DEB is often determined by SCC of skin origin (Robertson et al, 2021).…”

Section: Case Reportmentioning

confidence: 99%

Reconstruction with free jejunal flap in dystrophic epidermolysis bullosa complicated with hypopharyngeal cancer: A case report

Matsumoto,

Otani,

Seike

et al. 2024

Microsurgery

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Epidermolysis bullosa (EB) encompasses a range of rare genetic dermatological conditions characterized by mucocutaneous fragility and a predisposition to blister formation, often triggered by minimal trauma. Blisters in the pharynx and esophagus are well‐documented, particularly in dystrophic EB (DEB). However, there have been few reports of mucocutaneous squamous cell carcinoma (SCC) in the head and neck region, for which surgery is usually avoided. This report presents the first case of free jejunal flap reconstruction after total pharyngolaryngoesophagectomy for hypopharyngeal cancer in a 57‐year‐old patient with DEB. The patient with a known diagnosis of DEB had a history of SCC of the left hand and esophageal dilatation for esophageal stricture. PET‐CT imaging during examination of systemic metastases associated with the left‐hand SCC revealed abnormal accumulation in the hypopharynx, which was confirmed as SCC by biopsy. Total pharyngolaryngoesophagectomy was performed, followed by reconstruction of the defect using a free jejunal flap. A segment of the jejunum, approximately 15 cm in length, was transplanted with multiple vascular pedicles. The patient made an uneventful recovery postoperatively and was able to continue oral intake 15 months later with no complications and no recurrence of SCC in the head and neck region. While cutaneous SCC is common in DEB, extracutaneous SCC is relatively rare. In most previous cases, non‐surgical approaches with radiotherapy and chemotherapy were chosen due to skin fragility and multimorbidity. In the present case, vascular fragility and mucosal damage of the intestinal tract were not observed, and routine vascular and enteric anastomoses could be performed, with an uneventful postoperative course. Our findings suggest that highly invasive surgery, including free tissue transplantation such as with a free jejunal flap, can be performed in patients with DEB.

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“…One of the main complications of severe RDEB is development of SCC along with chronic wounds, strictures and carcinomas of the esophagus, anemia and musculoskeletal deformities. [1][2][3] According to Montaudié et al, the mean age of diagnosis of SCC in patients with RDEB is 36 years. 4 The National EB Registry in the United States reported that by the age of 35 this risk is 67.8% and reaches 90.1% at age 55.…”

Section: Dear Editorsmentioning

confidence: 99%

Cemiplimab treatment of squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa

Vasilev

Kalev

Karamanliev

et al. 2023

J Deutsche Derma Gesell

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Esophageal carcinoma in severe recessive dystrophic epidermolysis bullosa—an underestimated complication?

Abstract: 2 H€ usken AC, Tsianakas A, Hensen P et al. Comparison of pegylated interferon a-2b plus psoralen PUVA versus standard interferon a-2a plus PUVA in patients with cutaneous T-cell lymphoma.

Cited by 4 publications

References 8 publications

Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa

Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa

Reconstruction with free jejunal flap in dystrophic epidermolysis bullosa complicated with hypopharyngeal cancer: A case report

Cemiplimab treatment of squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa

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