631 Oxidative stress imbalance as contributing factor in the establishment of fibrosis in recessive dystrophic epidermolysis bullosa

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare skin fragility disorder characterized by deficient dermo-epidermal adhesion, due to mutations in the gene encoding collagen VII. Patients with RDEB suffer chronic wounds and inflammation that ultimately trigger fibrosis and highly aggressive squamous cell carcinoma development. We previously reported a clinical case of two siblings carrying in homozygosis the same null mutation (c.6527insC) in the COL7A1 gene, but with marked phenotypic differences with respect to the extent of mucocutaneous involvement, skin fragility and fibrosis.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Wound Healing and Tissue Remodelling Source Type: research

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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 ne...
Source: Case Reports in Oncology - Category: Cancer & Oncology Source Type: research
CONCLUSION: Targeting TGFBR1 kinase activity may have therapeutic benefit in the majority of RDEB cSCCs, however, the potential tumour suppressive role of TGFβ signalling in a subset of RDEB cSCCs necessitates biomarker identification to enable patient stratification before clinical intervention. PMID: 32726455 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
This case report describes a woman in her 40s with recessive dystrophic epidermolysis bullosa and multiple cutaneous squamous cell carcinomas who was successfully treated with pembrolizumab.
Source: JAMA Dermatology - Category: Dermatology Source Type: research
Conclusions: There are many benefits to ATPSG reconstruction when chosen for the appropriate candidate. The meticulous technique and strict adherence to the postoperative protocol are crucial when these reconstructions are performed. Detailed descriptions of intraoperative and postoperative recommendations to optimize outcomes after ATPSG are presented.
Source: Plastic and Reconstructive Surgery Global Open - Category: Cosmetic Surgery Tags: Original Articles Source Type: research
Condition:   Recessive Dystrophic Epidermolysis Bullosa Intervention:   Sponsor:   Assistance Publique - Hôpitaux de Paris Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Dystrophic epidermolysis bullosa (DEB) is a hereditary skin fragility disorder, characterized by trauma-induced blistering followed by soft tissue fibrosis. One of the most feared complications is the early de...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
PMID: 31486079 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
Recessive Dystrophic epidermolysis bullosa (RDEB) is a skin genetic disease caused by mutations in COL7A1 (coding type VII collagen). Type VII collagen is essential to maintain the fully functional dermal-epidermal junction, and the loss of type VII collagen results in detachment of epidermis. RDEB patients, without functional type VII collagen, suffer from the repetitive blistering and have high risk of early-onset aggressive squamous cell carcinoma. Currently, no fundamental treatment is available for RDEB.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Stem Cells, Skin Appendages and Tissue Regeneration Source Type: research
More News: Cancer & Oncology | Carcinoma | Dermatology | Epidermolysis Bullosa | Genetics | Skin | Skin Cancer | Squamous Cell Carcinoma