Dystrophic Epidermolysis Bullosa

Yadav, Randhir Sagar; Jayswal, Amar; Shrestha, Shumneva; Gupta, Sanjay; Paudel, Udaya Raj

doi:10.31729/jnma.3791

Cited by 10 publications

(5 citation statements)

References 10 publications

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“…However, follow-up data demonstrated that only a subset of patients had their hands fixed with braces. The main reason is that as the disease progresses, some clinical symptoms of DEB patients, including blisters on the skin of the whole body, mucosal ulcers, etc., gradually worsen with time ( 16 ), making everyday care more challenging. DEB patients who eventually develop systemic diseases die of squamous cell carcinoma ( 17 , 18 ).…”

Section: Discussionmentioning

confidence: 99%

Simple and affordable soft brace application in dystrophic epidermolysis bullosa patients

Wu,

Jiao

2024

Front. Surg.

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BackgroundDystrophic epidermolysis bullosa (DEB) is a hereditary disease characterized by increased fragility of the epidermis and mucosa and is accompanied by blister formation following minor trauma. Repeated injuries cause contracture and scar formation, which can further result in hand deformity, leading to a decline in hand ability and a lower quality of life. In this study, after the scar release of patients' hands, we developed a new and practical portable soft support, and evaluated its efficacy in delaying the scar contracture of hands after operation.MethodsAccording to the hand function scores, the patients were divided into two groups. Those with excellent and good grades were assigned to the open hand function group, and those with poor grades were allocated to the restricted hand function group. The primary conditions, the use of a postoperative soft brace, and some common factors in the two groups were compared to determine whether these parameters influence postoperative hand function.ResultsThere were no significant differences in age, gender, body mass index, ADL assessment index, albumin concentration, hemoglobin concentration, fasting blood glucose level, prothrombin time, and activated partial thromboplastin time between the two groups (p > 0.05). In contrast, there was a significant difference between the two groups in the use of soft braces following the operation (p < 0.05). The odds ratio of patients fixed with a brace compared with patients not fixed with soft braces was 11.01.ConclusionsSoft brace is a critical factor impacting the hand function of patients with dystrophic epidermolysis bullosa after scar contracture release in both hands. Indeed, a hand brace worn after the operation can delay the recurrence of scar contracture in both hands and offer patients a longer time to use their hands effectively. In addition, by restoring the appearance of patients' hands and some hand functions, patients' mental state and quality of life have been greatly improved.

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Section: Discussionmentioning

confidence: 99%

Simple and affordable soft brace application in dystrophic epidermolysis bullosa patients

Wu,

Jiao

2024

Front. Surg.

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“…However, follow-up data demonstrated that only a subset of patients had their hands xed with braces. The main reason is that as the disease progresses, some clinical symptoms of DEB patients, including blisters on the skin of the whole body, mucosal ulcers, etc., gradually worsen with time [15], making everyday care more challenging. DEB patients who eventually develop systemic diseases die of squamous cell carcinoma [16,17].…”

Section: Discussionmentioning

confidence: 99%

Analysis of factors influencing hand function in patients with Dystrophic Epidermolysis Bullosa following surgery

Wang

Jiao

Yang

2022

Preprint

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Background Dystrophic epidermolysis bullosa (DEB) is a hereditary disease characterized by increased fragility of the epidermis and mucosa and is accompanied by blister formation following minor trauma. The patient develops blisters on the skin, which heal after being broken. Repeated injuries cause contracture and scar formation, which can further result in hand deformity, leading to a decline in hand ability and a lower quality of life.It is thus, critical to reconstructing the function and appearance of their hands through surgical manipulation to aid their reintegration into society. Objectives This study aimed to analyze patients' clinical and follow-up information to investigate the influencing factors of hand function in patients with dystrophic epidermolysis bullosa after the release of scar contracture in both hands.Methods The hand function of the patients two years after the operation was assessed in accordance with the evaluation criteria formulated by the hand surgery branch of the Chinese Medical Association in 2000. According to the scoring results, the patients were divided into two groups. Those with excellent and good grades were assigned to the open hand function group, and those with poor and poor grades were allocated to the restricted hand function group. The primary conditions, the use of a postoperative hand brace, and some common factors in the two groups were compared to determine whether these parameters influence postoperative hand function.Results There were no significant differences in age, gender, nationality, body mass index, ADL assessment index, albumin concentration, hemoglobin concentration, fasting blood glucose level, prothrombin time, and activated partial thromboplastin time between the two groups (p>0.05). In contrast, there was a significant difference between the two groups in the use of hand braces following the operation (p<0.05). The odds ratio of patients fixed with a brace compared with patients not fixed with a brace was 11.01.Conclusions Hand brace is a critical factor impacting the hand function of patients with dystrophic epidermolysis bullosa after scar contracture release in both hands. Indeed, a hand brace worn after the operation can delay the recurrence of scar contracture in both hands and offer patients a longer time to use their hands effectively.Level of Evidence IV

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“…The disease has an incidence of 0.08-0.5 per million live births, occurs among all ethnicities, and is inherited either from one of the parents or both due to deficiency in several genes. [1][2][3] Recessive dystrophic EB (RDEB) is attributed to the bi-allelic loss-offunction mutations in COL7A1 (3p21.31), a gene expressed by skin keratinocytes and fibroblasts which encodes type VII collagen (C7). 4 C7 is the main component of anchoring fibrils (AFs) which ensures the adherence of the epidermis to the dermis within the basement membrane.…”

Section: Introductionmentioning

confidence: 99%

Comparing COL7A1 gene expression in fibroblast cells of dystrophic epidermolysis bullosa patients with clinical responses to autologous fibroblasts transplantation

Eslami¹,

Golshanfard²,

Bajouri³

et al. 2023

J. Contemp. Med. Sci.

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Objectives: This clinical research aimed to establish autologous fibroblasts transplantation as a possible treatment for patients with DEJ. The COL7A1 gene expression was also evaluated. Methods: Six patients (3M and 3F), 4 with no recurrent wounds and 2 with recurrent wounds after surgery, and 15 healthy subjects were included in the study as controls. Quantitative real-time polymerase chain reaction (real-time PCR) analysis of the COL7A1 gene was performed using an oligonucleotide primer pair designed to amplify across the exon/exon junction. Results: The COL7A1 expression level was down-regulated at exons 26-27, 47-48, 96-97, and 116-117 in all patients′ fibroblasts compared with the healthy controls. However, the expression of the COL7A1 gene in the fibroblasts of the patients with a positive response to the treatment was not significantly changed compared with the patients with the poor response. (ClinicalTrials.gov NCT01908088) Conclusion: In this study the mRNA expression levels of COL7A1 were significantly less in the patients when compared with healthy controls. However the COL7A1 expression after autologous fibroblasts transplantation was not different between the two groups of patients, and further examination is needed to elucidate the mechanism of the treatment.

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Dystrophic Epidermolysis Bullosa

Cited by 10 publications

References 10 publications

Simple and affordable soft brace application in dystrophic epidermolysis bullosa patients

Simple and affordable soft brace application in dystrophic epidermolysis bullosa patients

Analysis of factors influencing hand function in patients with Dystrophic Epidermolysis Bullosa following surgery

Comparing COL7A1 gene expression in fibroblast cells of dystrophic epidermolysis bullosa patients with clinical responses to autologous fibroblasts transplantation

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