358 results on '"Epidermolysis Bullosa Dystrophica complications"'
Search Results
52. Successful use of tofacitinib in epidermolysis bullosa pruriginosa.
- Author
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Chen KJ, Fang S, Ye Q, and Jia M
- Subjects
- Adult, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica pathology, Female, Humans, Pruritus drug therapy, Pruritus etiology, Dermatologic Agents therapeutic use, Epidermolysis Bullosa Dystrophica drug therapy, Janus Kinase Inhibitors therapeutic use, Piperidines therapeutic use, Pyrimidines therapeutic use
- Abstract
This case report describes 26-year-old woman who had multiple clusters of pale-pink lichenoid papules since childhood and the accompanying itching was intense. Skin biopsy revealed obvious fissures had formed under the epidermis. The patient was diagnosed with epidermolysis bullosa pruriginosa and was successfully treated with tofacitinib., (© 2021 British Association of Dermatologists.)
- Published
- 2022
- Full Text
- View/download PDF
53. Transcriptome-Guided Drug Repurposing for Aggressive SCCs.
- Author
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Zauner R, Wimmer M, Dorfer S, Ablinger M, Koller U, Piñón Hofbauer J, Guttmann-Gruber C, Bauer JW, and Wally V
- Subjects
- Antineoplastic Agents therapeutic use, Carcinoma, Squamous Cell drug therapy, Carcinoma, Squamous Cell etiology, Data Mining, Drug Repositioning, Epidermolysis Bullosa Dystrophica genetics, Gene Expression Profiling, Gene Expression Regulation, Neoplastic drug effects, Gene Regulatory Networks drug effects, Humans, RNA-Seq, Skin Neoplasms drug therapy, Skin Neoplasms etiology, Antineoplastic Agents pharmacology, Carcinoma, Squamous Cell genetics, Computational Biology methods, Epidermolysis Bullosa Dystrophica complications, Organ Transplantation adverse effects, Skin Neoplasms genetics
- Abstract
Despite a significant rise in the incidence of cutaneous squamous cell carcinoma (SCC) in recent years, most SCCs are well treatable. However, against the background of pre-existing risk factors such as immunosuppression upon organ transplantation, or conditions such as recessive dystrophic epidermolysis bullosa (RDEB), SCCs arise more frequently and follow a particularly aggressive course. Notably, such SCC types display molecular similarities, despite their differing etiologies. We leveraged the similarities in transcriptomes between tumors from organ transplant recipients and RDEB-patients, augmented with data from more common head and neck (HN)-SCCs, to identify drugs that can be repurposed to treat these SCCs. The in silico approach used is based on the assumption that SCC-derived transcriptome profiles reflect critical tumor pathways that, if reversed towards healthy tissue, will attenuate the malignant phenotype. We determined tumor-specific signatures based on differentially expressed genes, which were then used to mine drug-perturbation data. By leveraging recent efforts in the systematic profiling and cataloguing of thousands of small molecule compounds, we identified drugs including selumetinib that specifically target key molecules within the MEK signaling cascade, representing candidates with the potential to be effective in the treatment of these rare and aggressive SCCs.
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- 2022
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54. Evaluating a Targeted Cancer Therapy Approach Mediated by RNA trans -Splicing In Vitro and in a Xenograft Model for Epidermolysis Bullosa-Associated Skin Cancer.
- Author
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Woess K, Sun Y, Morio H, Stierschneider A, Kaufmann A, Hainzl S, Trattner L, Kocher T, Tockner B, Leb-Reichl V, Steiner M, Brachtl G, South AP, Bauer JW, Reichelt J, Furihata T, Wally V, Koller U, Piñón Hofbauer J, and Guttmann-Gruber C
- Subjects
- Animals, Cell Line, Cell Survival drug effects, Cell Survival genetics, Disease Management, Disease Models, Animal, Disease Susceptibility, Epidermolysis Bullosa genetics, Epidermolysis Bullosa Dystrophica genetics, Ganciclovir pharmacology, Gene Expression Regulation drug effects, Genetic Loci, Genetic Therapy adverse effects, Humans, Mice, Skin Neoplasms diagnosis, Skin Neoplasms metabolism, Xenograft Model Antitumor Assays, Epidermolysis Bullosa complications, Epidermolysis Bullosa Dystrophica complications, Genetic Therapy methods, RNA Splicing, Skin Neoplasms etiology, Skin Neoplasms therapy, Trans-Splicing
- Abstract
Conventional anti-cancer therapies based on chemo- and/or radiotherapy represent highly effective means to kill cancer cells but lack tumor specificity and, therefore, result in a wide range of iatrogenic effects. A promising approach to overcome this obstacle is spliceosome-mediated RNA trans -splicing (SMaRT), which can be leveraged to target tumor cells while leaving normal cells unharmed. Notably, a previously established RNA trans -splicing molecule (RTM44) showed efficacy and specificity in exchanging the coding sequence of a cancer target gene (Ct-SLCO1B3) with the suicide gene HSV1-thymidine kinase in a colorectal cancer model, thereby rendering tumor cells sensitive to the prodrug ganciclovir (GCV). In the present work, we expand the application of this approach, using the same RTM44 in aggressive skin cancer arising in the rare genetic skin disease recessive dystrophic epidermolysis bullosa (RDEB). Stable expression of RTM44, but not a splicing-deficient control (NC), in RDEB-SCC cells resulted in expression of the expected fusion product at the mRNA and protein level. Importantly, systemic GCV treatment of mice bearing RTM44-expressing cancer cells resulted in a significant reduction in tumor volume and weight compared with controls. Thus, our results demonstrate the applicability of RTM44-mediated targeting of the cancer gene Ct-SLCO1B3 in a different malignancy.
- Published
- 2022
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- View/download PDF
55. [Anesthesia for dental care management in children with dystrophic epidermolysis bullosa].
- Author
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Korolenkova MV, Tyshchenko AS, and Poberezhnaya AA
- Subjects
- Humans, Child, Sevoflurane, Dust, Water, Dental Care, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica surgery, Propofol, Anesthesia, Dental
- Abstract
The Aim of the Study: Was to summarize our experience in dental treatment of children with dystrophic epidermolysis bullosa (DEB) under deep intravenous sedation., Material and Methods: The study comprised 11 DEB patients aged 2-17 years who received full oral rehabilitation under deep sedation in Hospital Pediatric Dentistry department of the Central Research Institute of Dentistry and Maxillofacial Surgery in 2021-2022. Intravenous induction was used if a child already had venous access installed or it was feasible before sedation. If not the case inhalation induction with sevoflurane was performed for vein catheterization. Sedation was sustained by propofol infusion up to aimed concentration. Both dental treatment and extractions were carried out., Results: In 11 children 37 teeth were treated and 14 extracted. Mean duration of the procedure under deep sedation was 53 min (30-190 min). In two children multiple dental extractions resulted in extensive oral mucosa injury with bullae and erosions formation in vermillion, cheeks, and hard palate areas. No skin injuries, airway obstruction or long-term complications of both anesthesiologic an dental procedure were observed. The paper describes main preventive measures minimizing risks of skin and mucosa adverse events., Conclusion: Intravenous sedation with spontaneous respiration allows full oral rehabilitation in DEB children with minimal risks of skin and mucosal injury associated with intubation techniques when performing described preventive measures. Use of cofferdam is crucial for success and safety of the procedure as it prevents water, dust and dental fragments contamination of oropharynx which is especially important in case of sedation with spontaneous respiration.
- Published
- 2022
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56. [Oral microbiome in children with dystrophic recessive epidermolysis bullosa].
- Author
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Korolenkova MV, Poberezhnaya AA, and Dmitrieva NA
- Subjects
- Adolescent, Child, Child, Preschool, Humans, Wound Healing, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica pathology, Microbiota
- Abstract
The Aim of the Study: Was to assess bacterial load in oral wounds in children with recessive dystrophic epidermolysis bullosa (RDEB)., Materials and Methods: The study comprised 77 RDEB children aged 3-18 years (mean age 9.5±3.6 years) and 27 healthy children aged 4-18 years (mean age 9.8±4.1 years) who served as controls. Swabs for bacteriological study were taken from the oral wounds in RDEB patients and non-affected corresponding oral mucosa areas in controls. The microorganism growth was assessed after 24, 48 and 72 hours of incubation (37 °C and 30 °C) with subsequent identification in automatic bacteriological analyzer MicroScan Walk Away (Simens, USA). Results. The study revealed high prevalence and concentrations of Candida albicans (in 40.3% children), Staphilococcus aureus (23.4%), Enterobacter cloacae (9.1%), and Enterobacteria (10.4%) in RDEB children. From these species, only Candida albicans was present in controls (26%). The prevalence and concentration of commensal and pathogenic species correlated positively with age and significant difference was revealed between children at the age of 3-6 and 7-10 years ( p =0.001). Thus, bacterial load in oral wounds correlates with the RDEB natural history and fibrosis progression. Delayed oral wound healing was associated with microbiome shift towards biofilm-producing bacteria Staphilococcus aureus and Enterobacter cloacae., Conclusion: Oral wounds microbiome may be an indicator of RDEB severity and tendency to oral fibrosis. The decrease of bacterial load in the oral wounds may remove one of the healing obstacles and serve as fibrosis prevention measure.
- Published
- 2022
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57. [Morphological and functional assessment of the oral mucosa in children with dystrophic epidermolysis bullosa].
- Author
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Korolenkova MV and Poberezhnaya AA
- Subjects
- Adolescent, Child, Child, Preschool, Humans, Mouth Mucosa pathology, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica pathology, Mouth Diseases complications
- Abstract
The Aim of the Study: To validate modified oral index (MOI) for the assessment of the oral mucosa in children with dystrophic epidermolysis bullosa (DYB)., Materials and Methos: The study comprised 27 DYB children aged 4 to 18 years. Morphological component of MOI was documented by an intraoral camera with the registration of pathological elements in various of the oral cavity and differentiated scoring. Functional component included registration of ankyloglossia and microstomia measured by Bristol assessment system and orthodontic caliper, correspondingly, and then referred to normal age-matched values., Results: Oral mucosa condition deteriorates in DYB children with age both in morphological and functional aspects. MOI values more than 40 should be seen as prognostically unfavorable as they are always associated with severe functional restrictions. These restrictions are always present in children older than 6. If present in younger age they may indicate poor functional status in future., Conclusion: The MOI may be a useful tool for the assessment of the efficacy of the pharmacological agents' impact on the oral mucosa and disease prognosis. Correlation of MOI and general condition of DYB children needs further investigation.
- Published
- 2022
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58. Evidence for cutaneous dysbiosis in dystrophic epidermolysis bullosa.
- Author
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Bar J, Sarig O, Lotan-Pompan M, Dassa B, Miodovnik M, Weinberger A, Sprecher E, Segal E, and Samuelov L
- Subjects
- Adolescent, Adult, Case-Control Studies, Child, Preschool, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica genetics, Genotype, Humans, Staphylococcus isolation & purification, Young Adult, Bacteria isolation & purification, Dysbiosis complications, Epidermolysis Bullosa Dystrophica microbiology, Microbiota, Skin microbiology
- Abstract
Background: The human microbiome project addresses the relationship between bacterial flora and the human host, in both healthy and diseased conditions. The skin is an ecosystem with multiple niches, each featuring unique physiological conditions and thus hosting different bacterial populations. The skin microbiome has been implicated in the pathogenesis of many dermatoses. Given the role of dysbiosis in the pathogenesis of inflammation, which is prominent in dystrophic epidermolysis bullosa (DEB), we undertook a study on the skin microbiome., Aim: To characterize the skin microbiome in a series of patients with DEB., Methods: This was a case-control study of eight patients with DEB and nine control cases enrolled between June 2017 and November 2018. The skin of patients with DEB was sampled at three different sites: untreated wound, perilesional skin and normal-appearing (uninvolved) skin. Normal skin on the forearm was sampled from age-matched healthy controls (HCs). We used a dedicated DNA extraction protocol to isolate microbial DNA, which was then analysed using next-generation microbial 16S rRNA sequencing. Data were analysed using a series of advanced bioinformatics tools., Results: The wounds, perilesional and uninvolved skin of patients with DEB demonstrated reduced bacterial diversity compared with HCs, with the flora in DEB wounds being the least diverse. We found an increased prevalence of staphylococci species in the lesional and perilesional skin of patients with DEB, compared with their uninvolved, intact skin. Similarly, the uninvolved skin of patients with DEB displayed increased staphylococcal content and significantly different microbiome diversities (other than staphylococci) compared with HC skin., Conclusions: These findings suggest the existence of a unique DEB-associated skin microbiome signature, which could be targeted by specific pathogen-directed therapies. Moreover, altering the skin microbiome with increasing colonization of bacteria associated with nonchronic wounds may potentially facilitate wound healing in patients with DEB., (© 2021 British Association of Dermatologists.)
- Published
- 2021
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59. Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes.
- Author
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Sawka E and Funk T
- Subjects
- Humans, Infant, Skin, Brachydactyly, Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica diagnosis, Epidermolysis Bullosa Dystrophica genetics, Hallux
- Abstract
Epidermolysis bullosa (EB) encompasses a phenotypically and genetically heterogeneous group of inherited skin disorders characterized by blistering and erosions of the skin with minimal trauma. Dystrophic EB (DEB), both dominant and recessive, can be associated with several extracutaneous manifestations, including musculoskeletal deformities. Congenital deformities of the feet have rarely been reported in the literature. We describe an infant with dominant DEB and congenital absence of the skin who presented with congenital brachydactyly of the bilateral great toes., (© 2021 Wiley Periodicals LLC.)
- Published
- 2021
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60. Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study.
- Author
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Robertson SJ, Orrin E, Lakhan MK, O'Sullivan G, Felton J, Robson A, Greenblatt DT, Bernardis C, McGrath JA, Martinez AE, and Mellerio JE
- Subjects
- Adolescent, Adult, Humans, Middle Aged, Retrospective Studies, Young Adult, Carcinoma, Squamous Cell therapy, Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica diagnosis, Skin Neoplasms
- Abstract
Epidermolysis bullosa (EB), notably severe recessive dystrophic EB (RDEB-S), is associated with increased risk of aggressive mucocutaneous squamous cell carcinomas, the major cause of mortality in early adulthood. This observational, retrospective case review describes a series of EB patients with cutaneous squamous cell carcinomas over a 28-year period. Forty-four EB patients with squamous cell carcinomas were identified with a total of 221 primary tumours. They comprised: 31 (70%) with RDEB-S, 4 (9%) with other RDEB subtypes, 5 (11.4%) with dominant dystrophic EB, 3 (6.8%) with intermediate junctional EB and 1 (2.3%) with Kindler EB. Squamous cell carcinomas occurred earlier in RDEB-S (median age 29.5 years; age range 13-52 years) than other groups collectively (median age 47.1 years; age range 30-89 years) and most had multiple tumours (mean 5.8; range 1-44). Squamous cell carcinoma-associated mortality was high in RDEB-S (64.5%), with median survival after first squamous cell carcinoma of 2.4 years (range 0.5-12.6 years), significantly lower than previous reports, highlighting the need for early surveillance and better treatments.
- Published
- 2021
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61. Validity and accuracy of a mobile phone application for the assessment of wounds in recessive dystrophic epidermolysis bullosa.
- Author
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Nazaroff J, Solis D, Barriga M, Dutt-Singkh Y, Li S, Marinkovich PM, and Tang JY
- Subjects
- Adolescent, Adult, Child, Epidermolysis Bullosa Dystrophica complications, Female, Humans, Male, Reproducibility of Results, Skin Ulcer etiology, Young Adult, Cell Phone, Epidermolysis Bullosa Dystrophica pathology, Mobile Applications, Skin Ulcer pathology
- Published
- 2021
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62. Measurement of skin adhesion in recessive dystrophic epidermolysis bullosa patients.
- Author
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Nazaroff J, Manoukian M, Barriga M, Lane A, Marinkovich MP, and Tang JY
- Subjects
- Adult, Diagnostic Techniques and Procedures instrumentation, Epidermolysis Bullosa Dystrophica complications, Female, Humans, Male, Tissue Adhesions complications, Young Adult, Epidermolysis Bullosa Dystrophica pathology
- Published
- 2021
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63. Unusual plaque in a patient with recessive dystrophic epidermolysis bullosa.
- Author
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Zhu CS, Davis TL, and Browning JC
- Subjects
- Genes, Recessive, Humans, Carcinoma, Squamous Cell, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica diagnosis, Epidermolysis Bullosa Dystrophica genetics, Skin Abnormalities, Skin Neoplasms
- Published
- 2021
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64. Rare case of eccrine poroma in recessive dystrophic epidermolysis bullosa.
- Author
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Moraes Campos L, Luiz da Silva D, Amorim VA, Malzoni ML, Fernandes Abbade LP, and Roncada Haddad G
- Subjects
- Genes, Recessive, Humans, Skin, Epidermolysis Bullosa genetics, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica genetics, Poroma, Sweat Gland Neoplasms complications, Sweat Gland Neoplasms diagnosis
- Published
- 2021
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65. Impaired Wound Healing, Fibrosis, and Cancer: The Paradigm of Recessive Dystrophic Epidermolysis Bullosa.
- Author
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Tartaglia G, Cao Q, Padron ZM, and South AP
- Subjects
- Carcinoma, Squamous Cell etiology, Carcinoma, Squamous Cell genetics, Collagen Type VII metabolism, Epidermolysis Bullosa Dystrophica genetics, Epidermolysis Bullosa Dystrophica metabolism, Extracellular Matrix metabolism, Fibrosis, Gene Expression Regulation, Neoplastic, Humans, Mutation, Skin Neoplasms etiology, Skin Neoplasms genetics, Transforming Growth Factor beta metabolism, Wound Healing, Carcinoma, Squamous Cell metabolism, Collagen Type VII genetics, Epidermolysis Bullosa Dystrophica complications, Signal Transduction, Skin Neoplasms metabolism
- Abstract
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a devastating skin blistering disease caused by mutations in the gene encoding type VII collagen (C7), leading to epidermal fragility, trauma-induced blistering, and long term, hard-to-heal wounds. Fibrosis develops rapidly in RDEB skin and contributes to both chronic wounds, which emerge after cycles of repetitive wound and scar formation, and squamous cell carcinoma-the single biggest cause of death in this patient group. The molecular pathways disrupted in a broad spectrum of fibrotic disease are also disrupted in RDEB, and squamous cell carcinomas arising in RDEB are thus far molecularly indistinct from other sub-types of aggressive squamous cell carcinoma (SCC). Collectively these data demonstrate RDEB is a model for understanding the molecular basis of both fibrosis and rapidly developing aggressive cancer. A number of studies have shown that RDEB pathogenesis is driven by a radical change in extracellular matrix (ECM) composition and increased transforming growth factor-beta (TGFβ) signaling that is a direct result of C7 loss-of-function in dermal fibroblasts. However, the exact mechanism of how C7 loss results in extensive fibrosis is unclear, particularly how TGFβ signaling is activated and then sustained through complex networks of cell-cell interaction not limited to the traditional fibrotic protagonist, the dermal fibroblast. Continued study of this rare disease will likely yield paradigms relevant to more common pathologies.
- Published
- 2021
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66. Targeting the Jak/Signal Transducer and Activator of Transcription 3 Pathway with Ruxolitinib in a Mouse Model of Recessive Dystrophic Epidermolysis Bullosa-Squamous Cell Carcinoma.
- Author
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Jacków J, Rami A, Hayashi R, Hansen C, Guo Z, DeLorenzo D, Pappalardo A, Alvarez Cespedes D, Kim AL, Perez-Lorenzo R, Owens DM, and Christiano AM
- Subjects
- Administration, Oral, Animals, Carcinoma, Squamous Cell genetics, Carcinoma, Squamous Cell pathology, Cell Line, Tumor, Collagen Type VII genetics, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica genetics, Fibroblasts, Humans, Janus Kinases metabolism, Mice, Mutation, Nitriles, Pyrazoles pharmacology, Pyrimidines, STAT3 Transcription Factor metabolism, Signal Transduction drug effects, Skin Neoplasms genetics, Skin Neoplasms pathology, Xenograft Model Antitumor Assays, Carcinoma, Squamous Cell drug therapy, Epidermolysis Bullosa Dystrophica drug therapy, Janus Kinases antagonists & inhibitors, Pyrazoles administration & dosage, Skin Neoplasms drug therapy
- Published
- 2021
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67. Endodontic management of a patient with dystrophic epidermolysis bullosa: A case report.
- Author
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Turkyilmaz A, Bulut AC, and Hancerliogullari D
- Subjects
- Adult, Female, Humans, Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica therapy, Microstomia
- Abstract
Epidermolysis bullosa is a congenital genetic disease that causes blistering and erosion of the skin and mucosa. The main known forms include simple, junction, dystrophic and mixed subtypes. This case report presents the endodontic management and 1-year follow-up of a 27-year-old female patient with epidermolysis bullosa who was referred to the Faculty of Dentistry, Kırıkkale University, Turkey. An extraoral examination showed that the patient had multiple scars and blisters. The intraoral examination revealed ankyloglossia, microstomia, shallow buccal and vestibular sulci, enamel hypoplasia, gingival inflammation, mouth ulcers, symptomatic and asymptomatic deep caries, a tooth with an apical lesion and a tooth with pulpitis. The dental treatment was divided into four stages: (i) oral hygiene motivation and elimination of gingival bleeding, (ii) restorative and/or endodontic procedures, (iii) extractions and prosthetic treatments and (iv) recall appointments. A 1-year follow-up radiographic examination of the periapical status of the root canal treatments was clear., (© 2020 Australian Society of Endodontology Inc.)
- Published
- 2021
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68. Successful use of immunotherapy to treat advanced cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.
- Author
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Duong T, Wong D, Barrett A, and Price H
- Subjects
- Adult, Female, Humans, Immunologic Factors, Immunotherapy, Carcinoma, Squamous Cell therapy, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica therapy, Skin Neoplasms therapy
- Abstract
Recessive dystrophic epidermolysis bullosa (RDEB) is a multisystem inherited disorder associated with fragile skin, blister formation and poor wound healing. Patients with RDEB are at significantly increased risk of recurrent and aggressive cutaneous squamous cell carcinoma (cSCC) and because of their disease complexity, conventional therapies may not be possible. Recent advances in cancer immunotherapy have led to the successful use of immune checkpoint inhibitors (ICIs) in melanoma and other malignancies. However, the effects of ICIs in patients with cSCC and RDEB are currently unknown. A 30-year-old woman with RDEB and multiple unresectable cSCCs was found to have high tumour mutational burden and PD-L1 (programmed cell death-ligand 1) expression. She was started on an ICI, which yielded disease control and was well tolerated. Furthermore, her RDEB wounds improved. This case demonstrates successful use of immunotherapy for advanced cSCC in RDEB, a disease that is often challenging to treat with local therapies., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2021
- Full Text
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69. Reverse oblique proximal femoral fracture in dystrophic epidermolysis bullosa: challenges and recommendations.
- Author
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Giannoudis VP, Panteli M, Aderinto J, and Giannoudis PV
- Subjects
- Accidental Falls, Adult, Anti-Bacterial Agents therapeutic use, Bandages, Epidermolysis Bullosa Dystrophica complications, Female, Femoral Neck Fractures complications, Humans, Patient Positioning, Surgical Wound Infection prevention & control, Wound Closure Techniques, Epidermolysis Bullosa Dystrophica therapy, Femoral Neck Fractures surgery, Fracture Fixation, Internal methods, Open Fracture Reduction methods, Perioperative Care methods
- Abstract
A 35-year-old woman attended the emergency department after sustaining a reverse oblique proximal femur fracture, which was amenable to intramedullary nailing. Her presentation was complicated by a background of severe generalised recessive dystrophic epidermolysis bullosa, with extensive blistering of most of her skin, including the area over the standard surgical incision sites. For the successful management of this case, extensive input from the multidisciplinary team was required, with the team facing several challenges. The whole approach to nursing and surgical management (anaesthesia, positioning, fracture reduction and wound care) had to be modified, taking great care to protect the skin at any cost, therefore reducing the risk of a surgical site infection which would be catastrophic. The management of this patient can set a framework that can be followed in similar cases, aiming for a favourable outcome of such challenging, rare conditions., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2021
- Full Text
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70. Efficacy of allogeneic cord blood platelet gel on wounds of dystrophic epidermolysis bullosa patients after pseudosyndactyly surgery.
- Author
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Torkamaniha E, Amirkhani MA, Dahmardehei M, Rebulla P, Piccin A, Hortamani S, Heidari-Kharaji M, Mansouri P, Hamidieh AA, and Nilforoushzadeh MA
- Subjects
- Epidermolysis Bullosa Dystrophica complications, Female, Gels, Humans, Infant, Male, Transplantation, Autologous, Wounds and Injuries diagnosis, Wounds and Injuries etiology, Blood Platelets, Cell Transplantation methods, Epidermolysis Bullosa Dystrophica therapy, Fetal Blood transplantation, Quality of Life, Wound Healing physiology, Wounds and Injuries therapy
- Abstract
Epidermolysis bullosa (EB) is a rare genetic disorder characterized by the formation of blisters and wounds in skin and mucous membranes; it is classified into four types and has various methods of treatment. Management of previous wounds and prevention of formation of new lesions are the most important strategies in the course of therapy to improve patient's quality of life; lack of wound management can lead to further complications such as infection. The current study investigated the therapeutic effects of allogeneic platelet gel (prepared from umbilical cord blood) in a group of children diagnosed with dystrophic epidermolysis bullosa (DEB) eligible for surgical correction of pseudosyndactyly in the hand. The post-surgical clinical outcome in this group was compared with the clinical outcomes of DEB patients receiving the standard treatment (paraffin gauze wound dressing and topical antibiotics) after corrective surgery. The current study results showed an increase in the rate of recovery and promotion of tissue granulation, complete wound healing, and a decrease in pain level and treatment period. The application of cord blood platelet gel topical dressing was not a conventional method of treatment in patients with DEB wounds and blisters. However, the current study results demonstrated that this gel dressing could effectively accelerate epithelialization and healing of the wounds and decrease patients' pain and post-surgical recovery period, which altogether leads to improvements in patients' overall quality of life., (© 2020 by the Wound Healing Society.)
- Published
- 2021
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71. Aberrant recruitment of leukocytes defines poor wound healing in patients with recessive dystrophic epidermolysis bullosa.
- Author
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Phillips T, Huitema L, Cepeda R, Cobos DL, Perez RIM, Garza MS, Ringpfeil F, Dasgeb B, Uitto J, Salas-Alanis JC, Alexeev V, and Igoucheva O
- Subjects
- Adolescent, Adult, Aged, Child, Child, Preschool, Cross-Sectional Studies, Epidermolysis Bullosa Dystrophica immunology, Epidermolysis Bullosa Dystrophica pathology, Female, Humans, Infant, Leukocytes metabolism, Male, Middle Aged, Receptors, CCR2 metabolism, Receptors, Interleukin-8B metabolism, Skin cytology, Skin immunology, Young Adult, Epidermolysis Bullosa Dystrophica complications, Leukocytes immunology, Skin pathology, Wound Healing immunology
- Abstract
Background: Poorly healing wounds are one of the major complications in patients suffering from recessive dystrophic epidermolysis bullosa (RDEB). At present, there are no effective means to analyze changes in cellular and molecular networks occurring during RDEB wound progression to predict wound outcome and design betted wound management approaches., Objectives: To better define mechanisms influencing RDEB wound progression by evaluating changes in molecular and cellular networks., Methods: We developed a non-invasive approach for sampling and analysis of wound-associated constituents using wound-covering bandages. Cellular and molecular components from seventy-six samples collected from early, established and chronic RDEB wounds were evaluated by FACS-based immuno-phenotyping and ELISA., Results: Our cross-sectional analysis determined that progression of RDEB wounds to chronic state is associated with the accumulation (up to 90 %) of CD16
+ CD66b+ mature neutrophils, loss of CD11b+ CD68+ macrophages, and a significant increase (up to 50 %) in a number of CD11c+ CD80+ CD86+ activated professional antigen presenting cells (APC). It was also marked by changes in activated T cells populations including a reduction of CD45RO+ peripheral memory T cells from 80 % to 30 % and an increase (up to 70 %) in CD45RA+ effector T cells. Significantly higher levels of MMP9, VEGF-A and cathepsin G were also associated with advancing of wounds to poorly healing state., Conclusions: Our data demonstrated that wound-covering bandages are useful for a non-invasive sampling and analysis of wound-associated constituents and that transition to poorly healing wounds in RDEB patients as associated with distinct changes in leukocytic infiltrates, matrix-remodeling enzymes and pro-angiogenic factors at wound sites., Competing Interests: Declaration of Competing Interest The authors have no conflict of interest to declare., (Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.)- Published
- 2020
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72. Early teeth extraction in patients with generalized recessive dystrophic epidermolysis bullosa: A case series.
- Author
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Véliz S, Huber H, Yubero MJ, Fuentes I, Alsayer F, and Krämer SM
- Subjects
- Child, Humans, Oral Health, Tooth Extraction, Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica complications
- Abstract
Objectives: To present early teeth extractions as a treatment option in severe dental crowding in patients with generalized recessive dystrophic epidermolysis bullosa (RDEB)., Materials and Methods: Three patients with generalized RDEB were treated with early teeth extractions to prevent severe dental crowding., Results: Two patients had bilateral upper first premolars extraction, and the third patient had permanent maxillary canine extraction. Crowding was avoided, and no further orthodontic treatment was necessary., Conclusion: Considering the challenges of severe mucosal fragility and microstomia in patients with generalized RDEB, early teeth extractions are a reasonable option as an orthodontic management. This approach reduces the severity of dental crowding as the child gets older and reduces the need for orthodontic appliances. Individual factors such as access to dental care, general health, and oral health have an important impact on the decision-making process. Orthodontic treatment planning should include a multidisciplinary team., (© 2020 Special Care Dentistry Association and Wiley Periodicals, Inc.)
- Published
- 2020
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73. Electrochemotherapy, a local treatment for squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa.
- Author
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Bartolo J, Farricha V, Carvalhal S, Moura C, and Abecasis N
- Subjects
- Humans, Neoplasm Recurrence, Local, Carcinoma, Squamous Cell drug therapy, Electrochemotherapy, Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica diagnosis, Epidermolysis Bullosa Dystrophica genetics
- Abstract
Epidermolysis Bullosa (EB) is a rare group of diseases caused by genetic variants in skin structural proteins. EB is characterized by varying degrees of skin fragility, blisters and impaired wound healing, and is classified based on the ultrastructural levels of skin cleavage-simplex, junctional, dystrophic, and Kindler Syndrome. Squamous cell carcinoma (SCC) is the most severe complication and most common cause of death of patients with EB, particularly in those with recessive dystrophic Epidermolysis Bullosa (RDEB). To date, the first line of treatment of SCC in patients with RDEB is surgery, despite the high risk of recurrence. Radiotherapy and systemic therapy have been avoided due to its skin toxicity. Recently, electrochemotherapy (ECT) has been proposed as a potential treatment. We report eight sessions of ECT using bleomycin for treatment of SCC in five patients with EB. After 8 weeks all patients showed an objective response. Four patients (seven ECT sessions) had a complete response. The treatment was well tolerated, with mild adverse effects, such as local pain, erythema, and ulceration. Our results demonstrate that ECT is a potential treatment for SCC in patients with RDEB., (© 2020 Wiley Periodicals LLC.)
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- 2020
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74. Enteral iron absorption in patients with recessive dystrophic epidermolysis bullosa.
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Augsburger BD, Lucky AW, Marathe K, and Tarango C
- Subjects
- Dietary Supplements, Humans, Iron, Receptors, Transferrin, Anemia, Epidermolysis Bullosa Dystrophica complications
- Abstract
Background/objectives: To determine whether iron was being enterally absorbed in anemic patients with recessive dystrophic epidermolysis bullosa (RDEB)., Methods: Anemic patients with RDEB who were refractory or had poor adherence to oral or gastrostomy-given iron underwent enteral iron absorption challenges. Subjects were given 2 mg/kg of elemental iron. Successful iron absorption was defined as a two- to threefold increase of serum iron or a rise to above 100 µg/dL., Results: Nine of 12 iron challenges did not show increased iron absorption. Only three of the ten subjects demonstrated elevated iron absorption. All patients had elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), low serum albumin, and hemoglobin levels. Eight challenges were in patients with elevated soluble transferrin receptor (STFR)/log ferritin levels, indicating iron deficiency. The three challenges with elevated iron absorption also had elevated STFR/log ferritin as well as elevated ESR and CRP, but these inflammatory markers were, in general, less elevated than those in non-absorbers., Conclusions: Enteral iron is routinely prescribed for anemic patients with RDEB assuming a component of iron deficiency. Adherence to enteral iron tends to be unreliable due to unpalatable taste and gastrointestinal complaints. Enteral iron absorption tests are relatively noninvasive and appear to be well tolerated. Poor gastrointestinal iron absorption may be an important factor in failure to improve anemia in RDEB enterally. It may be prudent to test patients with RDEB who are anemic and not responding well to conventional iron supplements with iron absorption tests and to consider replacement with intravenous iron in iron-deficient patients., (© 2020 Wiley Periodicals LLC.)
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- 2020
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75. Optimize General Anesthesia for a Dystrophic Epidermolysis Bullosa Patient That Cannot Be Intubated.
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Chia WT, Liu YC, and Wong TW
- Subjects
- Anesthesia, General, Blister, Cicatrix, Female, Humans, Skin, Epidermolysis Bullosa Dystrophica complications
- Abstract
Dystrophic epidermolysis bullosa (DEB) is a rare genetic skin disease characterized by blisters and ulcers on the skin and mucosa after minor friction. The risk of invasive squamous cell carcinoma on the unhealed ulcers increases with age. Tracheal intubation during general anesthesia may induce tracheal stricture due to blister formation and/or scarring in DEB patients and cause severe airway obstruction. There is no consensus for handling DEB patients' fragile mucosa and skin during general anesthesia. We report an adult DEB patient who received two operations under different general anesthesia methods. The experience from this particular patient and her response to anesthesia may provide a satisfactory guide to avoid complications and improve the outcome for DEB patients receiving general anesthesia.
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- 2020
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76. Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
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Rashidghamat E, Kadiyirire T, Ayis S, Petrof G, Liu L, Pullabhatla V, Ainali C, Guy A, Aristodemou S, McMillan JR, Ozoemena L, Mee J, Pramanik R, Saxena A, Nuamah R, de Rinaldis E, Serrano S, Maurin C, Martinez-Queipo M, Lwin SM, Ilic D, Martinez A, Dazzi F, Slaper-Cortenbach I, Westinga K, Zeddies S, van den Broek M, Onoufriadis A, Mellerio JE, and McGrath JA
- Subjects
- Adolescent, Adult, Aged, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica diagnosis, Female, Humans, Infusions, Intravenous, Male, Middle Aged, Prospective Studies, Pruritus diagnosis, Pruritus etiology, Quality of Life, Severity of Illness Index, Transplantation, Homologous methods, Treatment Outcome, Wound Healing, Young Adult, Epidermolysis Bullosa Dystrophica therapy, Mesenchymal Stem Cell Transplantation methods, Pruritus therapy
- Abstract
Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary blistering disorder due to a lack of type VII collagen. At present, treatment is mainly supportive., Objectives: To determine whether intravenous allogeneic bone marrow-derived mesenchymal stromal/stem cells (BM-MSCs) are safe in RDEB adults and if the cells improve wound healing and quality of life., Methods: We conducted a prospective, phase I/II, open-label study recruiting 10 RDEB adults to receive 2 intravenous infusions of BM-MSCs (on day 0 and day 14; each dose 2-4 × 10
6 cells/kg)., Results: BM-MSCs were well tolerated with no serious adverse events to 12 months. Regarding efficacy, there was a transient reduction in disease activity scores (8/10 subjects) and a significant reduction in itch. One individual showed a transient increase in type VII collagen., Limitations: Open-label trial with no placebo., Conclusions: MSC infusion is safe in RDEB adults and can have clinical benefits for at least 2 months., (Copyright © 2019 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)- Published
- 2020
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77. Morphological and morphometric analysis of cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa: a retrospective study.
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Filoni A, Cicco G, Lospalluti L, Maglietta A, Foti C, Annichiarico G, Resta L, and Bonamonte D
- Subjects
- Humans, Retrospective Studies, Skin, Carcinoma, Squamous Cell, Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica genetics, Skin Neoplasms complications
- Abstract
Background: Recessive dystrophic epidermolysis bullosa is a highly disabling genodermatosis characterized by skin and mucosal fragility and blistering. Cutaneous squamous cell carcinoma (cSCC) is one of the most devastating complications, having a high morbidity and mortality rate. Patients with recessive dystrophic epidermolysis bullosa were reported to have up to a 70-fold higher risk of developing cSCC than unaffected individuals. Immune cells play a role in cancer evolution., Objective: The aim of our study was to evaluate immunohistological differences between cSCC in patients with and without recessive dystrophic epidermolysis bullosa., Methods: A retrospective study of 25 consecutive cases was performed; five were biopsies of cSCC taken from five patients with recessive dystrophic epidermolysis bullosa; as controls we analysed 10 cSCC in subjects without recessive dystrophic epidermolysis bullosa (5 primitive, 3 postburns and 2 postradiotherapy), 5 cSCC in renal transplant recipients and 5 cutaneous pseudoepitheliomatous hyperplasia in patients with recessive dystrophic epidermolysis bullosa., Results: A significant reduction of CD3+, CD4+ and CD68+ between the cSCC in patients with recessive dystrophic epidermolysis bullosa compared to primary cSCC and a significant reduction of CD3+, CD4+, CD8+ and CD20+ were observed in cSCC in patients with recessive dystrophic epidermolysis bullosa compared to secondary cSCC. On the contrary, there was no difference in CD3+, CD8+, CD20+ and CD68+ expression when comparing cSCC in patients with recessive dystrophic epidermolysis bullosa to cSCC in renal transplant recipients. No significant difference was found in size, histopathology, grading, number of mitoses and EGFR expression between the different groups., Conclusions: Our data show a reduction in immune cell peritumoral infiltration. Considering the well-known evolution of cSCC in patients with recessive dystrophic epidermolysis bullosa, as well as the younger age at diagnosis, it can be assumed that immune dysfunction might contribute to the cSCC aggressiveness in these patients., (© 2019 European Academy of Dermatology and Venereology.)
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- 2020
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78. Choledochoscope-assisted antegrade-retrograde endoscopic dilation of complete esophageal stenosis in a patient with dystrophic epidermolysis bullosa.
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Koklu H, Vahabov C, Parlak E, and Kav T
- Subjects
- Constriction, Pathologic, Dilatation, Humans, Epidermolysis Bullosa Dystrophica complications, Esophageal Stenosis diagnostic imaging, Esophageal Stenosis etiology, Esophageal Stenosis therapy
- Abstract
Dystrophic epidermolysis bullosa is a mucocutaneous disorder, characterized by recurrent formation of blisters and scarring. The gastrointestinal tract is commonly affected by the disease and the proximal esophagus is the most common area of involvement of the gastrointestinal tract. The esophageal strictures are common in patients with dystrophic epidermolysis bullosa that can lead to complete esophageal stenosis in some cases. The antegrade/retrograde endoscopic dilation is a commonly used method in these patients. Different kinds of endoscopes may be used for the retrograde procedure, such as conventional upper gastrointestinal (UGI) endoscopes, slim-paediatric UGI endoscopes and ultrathin UGI nasal endoscopes. Herein, we reported the first antegrade/retrograde esophageal dilation case performed under choledochoscopic guidance., Competing Interests: The authors declare that they have no conflict of interest, (© Acta Gastro-Enterologica Belgica.)
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- 2020
79. Presentation of pleural effusion and dilated cardiomyopathy in a case of dystrophic epidermolysis bullosa.
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Arshad MA, Ayub MR, Zil-E-Ali A, Rashid S, Kazi MY, and Pervaiz MA
- Subjects
- Collagen Type VII, Humans, Cardiomyopathy, Dilated, Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica genetics, Pleural Effusion diagnostic imaging, Pleural Effusion etiology
- Abstract
Epidermolysis Bullosa (EB), a genetic disorder of the skin that presents with eruptive lesions accompanied by blistering has multiple types. We present a case of dystrophic and epidermolysis bullosa (DEB), a rare variant of the disease with the underlying pathophysiology involving a mutation of type VII collagen that serves as an anchoring protein for basement membrane to the dermis. The patient presented with palmoplantar hyperkeratosis with blistering extending on multiple sites of the body, bilateral pleural effusion and an ejection fraction of 23% with moderate mitral regurgitation. The patient was treated symptomatically with diuretics and inotropic medication for the dilated heart, along with draining of pleural spaces. No case of DEB with pleural effusion has been reported prior to this one. We believe this is the first case that presented with both pleural effusion and dilated cardiomyopathy.
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- 2020
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80. Gastrointestinal: Anterior mediastinal colonic interposition on F-18 FDG PET/CT imaging.
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Huynh KN and Nguyen BD
- Subjects
- Carcinoma, Squamous Cell etiology, Colon surgery, Epidermolysis Bullosa Dystrophica complications, Humans, Male, Middle Aged, Skin Neoplasms etiology, Colon diagnostic imaging, Colon transplantation, Digestive System Surgical Procedures methods, Esophageal Diseases etiology, Esophageal Diseases surgery, Esophagectomy methods, Fluorodeoxyglucose F18, Mediastinum diagnostic imaging, Mediastinum surgery, Positron Emission Tomography Computed Tomography methods, Radiopharmaceuticals
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- 2020
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81. Verruciform xanthoma in a patient with recessive dystrophic epidermolysis bullosa: Case report and literature review.
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Stephens M, Rubin AI, and Perman MJ
- Subjects
- Female, Humans, Young Adult, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica pathology, Xanthomatosis etiology, Xanthomatosis pathology
- Abstract
Verruciform xanthoma (VX) is a rare finding thought to be caused by epidermal damage from trauma or inflammation and has been reported in a limited number of patients with recessive dystrophic epidermolysis bullosa (RDEB). Herein, we describe a 20-year-old woman with RDEB who developed a large, verrucous, pink plaque on the posterior thigh that was histologically proven to be a VX. We review cases of VX in patients with RDEB and summarize the clinical features, pathophysiology, and management principles., (© 2019 Wiley Periodicals, Inc.)
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- 2020
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82. Surgical management of hand deformities in patients with recessive dystrophic epidermolysis bullosa.
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Zhou X, Zhang Y, Zhao M, Jian Y, Huang J, Luo X, Yang J, and Sun D
- Subjects
- Adolescent, Child, Child, Preschool, Epidermolysis Bullosa Dystrophica complications, Female, Follow-Up Studies, Hand Deformities, Acquired etiology, Humans, Male, Occlusive Dressings, Physical Therapy Modalities, Postoperative Care, Retrospective Studies, Silicones, Splints, Young Adult, Epidermolysis Bullosa Dystrophica surgery, Hand Deformities, Acquired surgery, Orthopedic Procedures
- Abstract
Recessive dystrophic epidermolysis bullosa (RDEB) is a congenital disease caused by a mutation in the COL7A1 gene and frequently results in hand contractures and pseudosyndactyly. Although multiple treatments exist that can improve the hand malformations, there are currently still no radical cures for this disease because of its high recurrence rate. The present study reports our experiences on how to improve hand deformities in 11 RDEB patients with surgical management and postoperative skin dressings. Hand function was substantially improved after complete release of pseudosyndactyly and achievement of favorable digital web spaces. Patients were followed up for two years, and nine of which showed slight decrease in hand function characterized by re-narrowed web spaces, digit adhesion and flexed metacarpophalangeal (MP) and interphalangeal (IP) joints, while the last two patients underwent hand reoperation one year after their initial surgery because of recurrence. In conclusion, our results show that surgical correction followed by skin dressing changes is an effective approach to improving mitten-hand malformations in RDEB patients.
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- 2020
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83. Combined anti-inflammatory and low-dose antiproliferative therapy for squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
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Reimer A, Lu S, He Y, Bruckner-Tuderman L, Technau-Hafsi K, Meiss F, Has C, and von Bubnoff D
- Subjects
- Anti-Inflammatory Agents administration & dosage, Antibodies, Monoclonal, Humanized administration & dosage, Antibodies, Monoclonal, Humanized pharmacology, Antineoplastic Agents, Immunological administration & dosage, Antineoplastic Agents, Immunological pharmacology, Carcinoma, Squamous Cell complications, Celecoxib administration & dosage, Celecoxib pharmacology, Cell Proliferation drug effects, Cetuximab administration & dosage, Cetuximab pharmacology, Dose-Response Relationship, Drug, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica genetics, Female, Humans, Middle Aged, Skin Neoplasms complications, Treatment Outcome, Anti-Inflammatory Agents therapeutic use, Antibodies, Monoclonal, Humanized therapeutic use, Antineoplastic Agents, Immunological therapeutic use, Carcinoma, Squamous Cell drug therapy, Celecoxib therapeutic use, Cetuximab therapeutic use, Epidermolysis Bullosa Dystrophica drug therapy, Genes, Recessive, Skin Neoplasms drug therapy
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- 2020
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84. Verruciform xanthoma in recessive dystrophic epidermolysis bullosa and keratitis-ichthyosis-deafness syndrome: Report of two cases and a review of the literature.
- Author
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Evan-Browning E, Rork J, O'Donnell P, Elaba Z, Deng A, and Wiss K
- Subjects
- Adolescent, Carcinoma, Squamous Cell diagnosis, Diagnosis, Differential, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica genetics, Female, Humans, Keratitis complications, Keratitis genetics, Male, Skin Neoplasms diagnosis, Warts diagnosis, Warts etiology, Warts genetics, Xanthomatosis etiology, Xanthomatosis genetics, Xanthomatosis pathology, Xanthomatosis diagnosis
- Abstract
Verruciform xanthoma is a benign, wart-like lesion that can clinically mimic squamous cell carcinoma. We describe two teenage patients with severe genodermatoses, recessive dystrophic epidermolysis bullosa (RDEB), and keratitis-ichthyosis-deafness (KID) syndrome, respectively, each found to have plaques suspicious for malignancy, later demonstrated on histopathologic examination to be verruciform xanthoma. We discuss the connection between these severe genodermatoses and the suspected pathophysiology of verruciform xanthoma. In addition, we highlight the importance of recognizing verruciform xanthoma as a clinical mimicker of squamous cell carcinoma, for which patients with RDEB and KID syndrome are at increased risk., (© 2019 Wiley Periodicals, Inc.)
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- 2020
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85. Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain.
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Castelo B, Viñal D, Maseda R, Ostios L, Sánchez D, García-Salvatierra B, Escámez MJ, Martínez-Santamaría L, Del Río M, Mora-Rillo M, Vilches Y, Beato MJ, López Gutiérrez JC, Romero N, Santos C, Miranda J, and de Lucas R
- Subjects
- Adolescent, Adult, Carcinoma, Squamous Cell epidemiology, Carcinoma, Squamous Cell mortality, Carcinoma, Squamous Cell therapy, Epidermolysis Bullosa Dystrophica mortality, Female, Humans, Lung Neoplasms secondary, Male, Neoplasm Recurrence, Local, Prognosis, Retrospective Studies, Skin Neoplasms epidemiology, Skin Neoplasms mortality, Skin Neoplasms therapy, Spain epidemiology, Time Factors, Young Adult, Carcinoma, Squamous Cell etiology, Epidermolysis Bullosa Dystrophica complications, Skin Neoplasms etiology
- Abstract
Background: Cutaneous squamous cell carcinoma (cSCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). We provide the management and prognosis of cSCC in RDEB patients at a Spanish reference center., Materials and Methods: We retrospectively included patients with RDEB attended in La Paz University Hospital from November 1988 to October 2018., Results: Fourteen patients developed at least one cSCC. Tumors were predominantly well differentiated. Nearly half of the tumors have recurred. Median time to first recurrence was 23.4 months (95% CI: 17.2-29.5). Five patients have developed distant metastases. Median overall survival (mOS) was 136.5 months since the diagnosis of the first cSCC (95% CI: 30.6-242.3). When distant metastases occurred, mOS was 6.78 months (95% CI: 1.94-11.61)., Conclusions: cSCC is a life-threatening complication of RDEB patients. Although tumors are usually well differentiated, they tend to relapse. This is the first Spanish report of cSCC arising in RDEB patients.
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- 2019
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86. Diffuse membranoproliferative glomerulonephritis with focal sclerosis and renal amyloidosis in an adult male with autosomal dominant dystrophic epidermolysis bullosa: a case report.
- Author
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Soliman KM, Fülöp T, Ploth DW, and Herberth J
- Subjects
- Adult, Amyloidosis etiology, Amyloidosis pathology, Biopsy, Diagnosis, Differential, Glomerulonephritis, Membranoproliferative etiology, Glomerulonephritis, Membranoproliferative pathology, Humans, Male, Nephrosis, Lipoid diagnosis, Sclerosis, Amyloidosis diagnosis, Epidermolysis Bullosa Dystrophica complications, Glomerulonephritis, Membranoproliferative diagnosis, Kidney Glomerulus pathology
- Abstract
Previous reports of glomerular disease in adult patients with autosomal dominant dystrophic epidermolysis bullosa (EB) are limited and include post-infectious glomerulonephritis, IgA nephropathy, amyloidosis, and leukocytoclastic vasculitis. To our knowledge, membranoproliferative glomerulonephritis (MPGN) has not been described before. We report a case of a 39-year-old male with autosomal dominant dystrophic EB, presenting with bilateral leg swelling of one-week duration. There was no other significant past medical history. The physical examination was remarkable for scars and erosions over all body areas, with all extremities with blisters and ulcers covered, absent finger and toenails and bilateral lower extremity edema. Serum creatinine was 0.9 mg/dL, albumin 1.3 g/dL and urine protein excretion 3.7 g/24 h. Viral markers (hepatitis-B, C, and HIV), complement c3 and c4 levels and auto-immune antibody profile all remained negative or within normal limits. Renal ultrasound and echocardiogram were normal. Renal biopsy recovered 14 glomeruli, all with proliferation of mesangial and endothelial cells as well as an expansion of the mesangial matrix, focal segmental sclerosis and amorphous homogeneous deposits demonstrating apple-green birefringence under polarized light with Congo red stain. Our observation emphasizes the importance of recognizing MPGN and secondary amyloidosis in patients with EB, especially with the availability of newer treatment modalities.
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- 2019
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87. Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature.
- Author
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Pınarbaşı AS, Dursun I, Daldaban B, Günay N, Çiçek S, Şahin N, Yel S, Poyrazoglu MH, Akgün H, and Düşünsel R
- Subjects
- Child, Humans, Male, Amyloidosis complications, Epidermolysis Bullosa Dystrophica complications, Nephrotic Syndrome complications
- Abstract
Epidermolysis bullosa (EB) encompasses a clinically and genetically heterogeneous group of rare inherited diseases characterized by marked mechanical fragility of epithelial tissues with blistering and erosions following minor trauma. Amyloidosis is one of the most important complications of EB mostly seen in recessive dystrophic EB (RDEB) patients and can involve the kidney, bowel, liver, and also respiratory system. Herein, we present a child, who is probably the youngest case of genetically diagnosed RDEB, complicated with amyloidosis reported in literature. A 6-year-old boy who was diagnosed with EB was referred to our center with nephrotic-range proteinuria and hypoalbuminemia. He had homozygous mutation in COL7A1 gene. Kidney biopsy was remarkable for amyloidosis with positive Congo red staining, and amyloid fibrils were seen on electron microscopy. Although he did not have any symptoms of autoimmune diseases and mutation in the MEFV gene, he was given colchicine because of positive family history for familial Mediterranean fever and amyloidosis.
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- 2019
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88. Living Donor Kidney Transplantation in a Patient With Epidermolysis Bullosa: A Case Report.
- Author
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Ceuppens SHE, Kimenai HJAN, Roodnat JI, Mertens Zur Borg IRAM, Duipmans JC, IJzermans JNM, and Minnee RC
- Subjects
- Adult, Anesthesia, Epidural, Glomerulonephritis, IGA complications, Humans, Kidney Failure, Chronic etiology, Kidney Failure, Chronic surgery, Living Donors, Male, Epidermolysis Bullosa Dystrophica complications, Kidney Transplantation methods
- Abstract
Severe recessive dystrophic epidermolysis bullosa is a very rare inherited disease with excessive blisters forming starting at birth. Surgical intervention in this population creates a challenge: preventing formation of new lesions while managing previously scarred tissues. We present a case of a 27-year-old patient with end-stage renal disease caused by rapidly progressive IgA nephropathy. Living donor kidney transplantation was performed under local, spinal and epidural anesthesia. Living kidney transplantation in epidermolysis bullosa patients with end-stage renal disease should not be a contraindication for transplantation and should be considered as a viable and feasible option after careful preparation., (Copyright © 2019 Elsevier Inc. All rights reserved.)
- Published
- 2019
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89. Dystrophic calcinosis cutis in autosomal recessive dystrophic epidermolysis bullosa.
- Author
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Bhari N and Bharti P
- Subjects
- Administration, Topical, Calcinosis drug therapy, Calcinosis genetics, Child, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica drug therapy, Female, Genetic Counseling, Humans, Treatment Outcome, Wound Healing drug effects, Calcinosis pathology, Epidermolysis Bullosa Dystrophica pathology, Thiosulfates therapeutic use, Wound Healing physiology
- Abstract
A 6-year-old girl presented with a history of blistering and scarring in trauma-prone areas. On examination, calcium deposits were seen on bilateral palms and soles within her non-healing wounds. Clinical, genetic and radiological evaluation confirmed the diagnosis of autosomal recessive dystrophic epidermolysis bullosa with dystrophic calcification. The patient was started on topical 10% sodium thiosulfate for her calcinosis cutis. Identification and management of dystrophic calcification are important as it impairs wound healing., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2019
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90. Successful correction of pseudosyndactyly in recessive dystrophic epidermolysis bullosa using full thickness skin graft in resource-poor settings.
- Author
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Tripathy S, Dabas G, Handa S, De D, and Mahajan R
- Subjects
- Child, Preschool, Collagen Type VII genetics, Contracture etiology, Epidermolysis Bullosa Dystrophica genetics, Hand Deformities, Acquired etiology, Humans, Male, Contracture surgery, Developing Countries, Epidermolysis Bullosa Dystrophica complications, Hand Deformities, Acquired surgery, Skin pathology, Skin Transplantation
- Abstract
Competing Interests: None
- Published
- 2019
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- View/download PDF
91. Small Intestinal Submucosa Matrix as a Novel Therapy for Wounds in Dystrophic Epidermolysis Bullosa.
- Author
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Isaacs M, Veerkamp P, and Somani AK
- Subjects
- Adult, Carcinoma, Squamous Cell etiology, Epidermolysis Bullosa Dystrophica complications, Female, Humans, Intestine, Small transplantation, Male, Middle Aged, Mohs Surgery, Skin Neoplasms etiology, Surgical Wound etiology, Wound Healing, Biological Dressings, Carcinoma, Squamous Cell surgery, Epidermolysis Bullosa Dystrophica surgery, Intestinal Mucosa transplantation, Skin Neoplasms surgery, Surgical Wound surgery
- Published
- 2019
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92. Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.
- Author
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Atanasova VS, Pourreyron C, Farshchian M, Lawler M, Brown CA 4th, Watt SA, Wright S, Warkala M, Guttmann-Gruber C, Hofbauer JP, Fuentes I, Prisco M, Rashidghamat E, Has C, Salas-Alanis JC, Palisson F, Hovnanian A, McGrath JA, Mellerio JE, Bauer JW, and South AP
- Subjects
- Antineoplastic Agents pharmacology, Apoptosis, Carcinoma, Squamous Cell diagnosis, Cell Cycle Proteins genetics, Cell Cycle Proteins metabolism, Gene Knockdown Techniques, Genes, Recessive, Glycine pharmacology, Glycine therapeutic use, Humans, Keratinocytes drug effects, Keratinocytes metabolism, Molecular Targeted Therapy, Protein Serine-Threonine Kinases genetics, Protein Serine-Threonine Kinases metabolism, Proto-Oncogene Proteins genetics, Proto-Oncogene Proteins metabolism, RNA, Messenger, RNA, Small Interfering, Skin Neoplasms diagnosis, Sulfones pharmacology, Polo-Like Kinase 1, Antineoplastic Agents therapeutic use, Carcinoma, Squamous Cell drug therapy, Carcinoma, Squamous Cell etiology, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica genetics, Glycine analogs & derivatives, Skin Neoplasms drug therapy, Skin Neoplasms etiology, Sulfones therapeutic use
- Abstract
Purpose: Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the genetic disease recessive dystrophic epidermolysis bullosa (RDEB). Although emerging data are identifying why patients suffer this fatal complication, therapies for treatment of RDEB SCC are in urgent need. Experimental Design: We previously identified polo-like kinase 1 (PLK1) as a therapeutic target in skin SCC, including RDEB SCC. Here, we undertake a screen of 6 compounds originally designated as PLK1 inhibitors, and detail the efficacy of the lead compound, the multipathway allosteric inhibitor ON-01910, for targeting RDEB SCC in vitro and in vivo ., Results: ON-01910 (or rigosertib) exhibited significant specificity for RDEB SCC: in culture rigosertib induced apoptosis in 10 of 10 RDEB SCC keratinocyte populations while only slowing the growth of normal primary skin cells at doses 2 orders of magnitude higher. Furthermore, rigosertib significantly inhibited the growth of two RDEB SCC in murine xenograft studies with no apparent toxicity. Mechanistically, rigosertib has been shown to inhibit multiple signaling pathways. Comparison of PLK1 siRNA with MEK inhibition, AKT inhibition, and the microtubule-disrupting agent vinblastine in RDEB SCC shows that only PLK1 reduction exhibits a similar sensitivity profile to rigosertib., Conclusions: These data support a "first in RDEB" phase II clinical trial of rigosertib to assess tumor targeting in patients with late stage, metastatic, and/or unresectable SCC., (©2019 American Association for Cancer Research.)
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- 2019
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93. Wound healing deficits in severe generalized recessive dystrophic epidermolysis bullosa along anticancer treatment with cetuximab.
- Author
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Medek K, Koelblinger P, Koller J, Diem A, Ude-Schoder K, Bauer JW, and Laimer M
- Subjects
- Adult, Antineoplastic Agents, Immunological administration & dosage, Carcinoma, Squamous Cell pathology, Epidermolysis Bullosa Dystrophica pathology, Female, Humans, Skin Neoplasms pathology, Carcinoma, Squamous Cell complications, Cetuximab administration & dosage, Epidermolysis Bullosa Dystrophica complications, Skin Neoplasms complications, Wound Healing
- Published
- 2019
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94. Dystrophic epidermolysis bullosa pruriginosa presenting with flagellate scarring lesions.
- Author
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Morimoto N, Shimizu A, Hattori M, Kuriyama Y, Nakano H, and Ohnishi K
- Subjects
- Collagen Type VII genetics, Epidermolysis Bullosa Dystrophica complications, Genetic Testing, Humans, Male, Middle Aged, Cicatrix etiology, Epidermolysis Bullosa Dystrophica diagnosis, Epidermolysis Bullosa Dystrophica pathology
- Published
- 2019
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95. Image Gallery: Multiple localized lipoatrophy in recessive dystrophic epidermolysis bullosa.
- Author
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Nohara T, Fujita Y, Takashima S, Natsuga K, and Shimizu H
- Subjects
- Adolescent, Atrophy diagnostic imaging, Atrophy etiology, Female, Humans, Leg, Magnetic Resonance Imaging, Subcutaneous Fat diagnostic imaging, Epidermolysis Bullosa Dystrophica complications, Subcutaneous Fat pathology
- Published
- 2019
- Full Text
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96. Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris.
- Author
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Gong L, Liu CC, Li YH, and Xu XG
- Subjects
- Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica diagnosis, Filaggrin Proteins, Humans, Ichthyosis Vulgaris complications, Ichthyosis Vulgaris diagnosis, Male, Point Mutation, Exome Sequencing, Young Adult, Collagen Type VII genetics, Epidermolysis Bullosa Dystrophica genetics, Ichthyosis Vulgaris genetics, Intermediate Filament Proteins genetics
- Abstract
We report a 21-year-old man with recurrent bullous eruptions and severe itching on the lower legs and feet since 5 years of age. Dry, dirty brown, tile-like scales covered his lower legs with dystrophic toenails. Nodular prurigo-like lesions, scarring papules and milia remitted after the bullous eruptions. His father and another two family members had similar but mild presentations with recurrent bullae on the lower legs. Whole exome sequencing detected the heterozygous variants of COL7A1 c.6698G>A and FLG c.7249C>T in this pedigree. COL7A1 c.6698G>A was reported in bullous dermolysis of the newborn and FLG c.7249C>T was reported in ichthyosis vulgaris. Thus, the diagnosis of dystrophic epidermolysis bullosa pruriginosa associated with ichthyosis vulgaris was made., (© 2018 Japanese Dermatological Association.)
- Published
- 2019
- Full Text
- View/download PDF
97. Endoscopic balloon dilation of oesophageal stenosis in a patient with recessive dystrophic epidermolysis bullosa.
- Author
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Santos P, Simões C, Lopes J, Carrilho Ribeiro L, and Velosa J
- Subjects
- Adult, Dilatation instrumentation, Epidermolysis Bullosa Dystrophica genetics, Esophageal Stenosis etiology, Female, Genes, Recessive, Humans, Dilatation methods, Epidermolysis Bullosa Dystrophica complications, Esophageal Stenosis therapy, Esophagoscopy
- Published
- 2019
- Full Text
- View/download PDF
98. Dilated Cardiomyopathy in a Child with Recessive Dystrophic Epidermolysis Bullosa.
- Author
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Imbernón-Moya A, Maseda-Pedrero R, Feito M, and de Lucas R
- Subjects
- Child, Epidermolysis Bullosa Dystrophica genetics, Female, Genes, Recessive, Humans, Cardiomyopathy, Dilated etiology, Epidermolysis Bullosa Dystrophica complications
- Published
- 2019
- Full Text
- View/download PDF
99. Clinical algorithm to manage anemia in epidermolysis bullosa.
- Author
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Simpson B, Tarango C, and Lucky AW
- Subjects
- Algorithms, Anemia diagnosis, Anemia therapy, Diagnosis, Differential, Humans, Anemia etiology, Epidermolysis Bullosa Dystrophica complications
- Abstract
Epidermolysis bullosa is a group of rare genetic disorders with multiple organ system involvement. In one severe form, recessive dystrophic epidermolysis bullosa, chronic anemia is common. This report outlines the multifactorial nature of anemia in recessive dystrophic epidermolysis bullosa and presents a practical clinical algorithm based on expert consensus for the diagnosis and treatment of anemia in recessive dystrophic epidermolysis bullosa., (© 2018 Wiley Periodicals, Inc.)
- Published
- 2018
- Full Text
- View/download PDF
100. Dystrophic Epidermolysis Bullosa.
- Author
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Yadav RS, Jayswal A, Shrestha S, Gupta SK, and Paudel U
- Subjects
- Adult, Amputation, Surgical, Epidermolysis Bullosa Dystrophica complications, Epidermolysis Bullosa Dystrophica therapy, Humans, Leg Injuries surgery, Male, Epidermolysis Bullosa Dystrophica diagnosis, Leg Injuries complications, Multiple Trauma complications
- Abstract
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1. There are 14 subtypes of dystrophic epidermolysis bullosa and 400 mutations of COL7A1. Electron microscopy is the gold standard diagnostic test but expensive. Immunofluorescence study is a suitable diagnostic alternative. Trauma prevention along with supportive care is the mainstay of therapy. Squamous cell carcinoma develops at an early age in epidermolysis bullosa than other patients, particularly in recessive dystrophic epidermolysis bullosa subtypes. Regular follow-up is imperative in detecting and preventing complications. Gene therapy, cell therapy and bone marrow transplantation are the emerging novel therapeutic innovations. Preventing possible skin and mucosal injury in patients requiring surgery should be worked on. Here, we present a case of dystrophic epidermolysis bullosa in a 26-year-old male. Keywords: blister; dystrophic epidermolysis bullosa; epidermolysis bullosa; knee disarticulation; surgery.
- Published
- 2018
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