Congenital epidermolysis bullosa is a clinically and genetically heterogenous group of hereditary skin diseases characterized by the formation of bullae and/or erosions in response to insignificant mechanical effect. The variety and severity of clinical manifestations of the disease determine the early disablement of patients and the decrease in the quality of life, which requires the development of pathogenetic and etiological methods of treatment. Methods of gene therapy are the most promising direction to study, since they can affect the cause of congenital epidermolysis bullosa.
Background: Inherited epidermolysis bullosa is a group of genetic skin disorders. In most severe forms, such as junctional and dystrophic subtypes, quality of life and life expectancy are significantly decreased. Therapeutic approaches include wound care and complication treatment.Aims: To evaluate the incidence and prevalence of inherited epidermolysis bullosa in the Russian Federation, sociodemographic characterisrics and provision of healthcare.Methods: To conduct the research forms summarizing demographic, medical and social information on inherited epidermolysis bullosa patients were developed. The forms were sent to state outpatient dermatologic clinics in federal subject of the Russian Federation. Data on inherited epidermolysis bullosa patients from outpatient dermatologic clinics were obtained within the period of 2014−2016 by extracting information from their medical charts. A confirmed inherited epidermolysis bullosa diagnosis was considered as an inclusion criterion for the research. Based on the collected data prevalence and incidence rate were estimated.Results: Data on 439 patients from 70 federal subject at year-end 2014, 404 patients from 59 federal subject at year-end 2015 and 417 patients from 60 federal subject at year-end 2016 were collected. In 2014 EB simplex was diagnosed in 19.6% patients, dystrophic EB — in 11.6% patients. In most patients (66%) EB type was not diagnosed. In 2016 patients with EB simplex (48%) and dystrophic EB (24.2%) prevailed. In 25% patients an EB type was not specified. In 2014 the prevalence rates were estimated as 3.6 (in 70 federal subject), in 2015 — 3.8 (in 59 federal subject), in 2016 — 3.9 per 1 million population (in 60 federal subject). The incidence rates were estimated as 0.22 and 0.33 per 1 million population in 2015 and 2016 respectively.Conclusions: In 2016 the percent of patients with established EB type has increased in comparison to 2014. No significant changes in prevalence rates has been registered.
Aim. To evaluate the clinical efficacy of modern atraumatic non-adherent wound dressings in patients with congenital epidermolysis bullosa. Materials and methods. The study involved 9 patients diagnosed with congenital epidermolysis bullosa (EB), including 7 women and 2 men aged 21–50 years. All the patients underwent immunofluorescent antigenic mapping of skin biopsies to confirm the clinical diagnosis. External therapy using modern atraumatic non-adherent wound dressings was performed in all the patients. The evaluation of the clinical efficacy of the applied therapy was carried out on the 14th and 30th day in accordance with the following criteria: complete healing of erosions or ulcers; significant improvement (reduction of erosions/ulceration by at least 75 % compared with the baseline data, reduction of exudate, the presence of granulations, reduction of inflammation signs, reduction of pain); improvement (reduction of erosions/ulceration area by less than 75 %, but more than 25 % compared with the baseline data, reduction of exudate, presence of granulations, reduction of inflammation signs, reduction of pain); without change (reduction of erosions/ulceration by less than 25 % or no change compared with the baseline data, a slight decrease in the amount of exudate, no granulations, a slight decrease in inflammation signs, a slight reduction of pain); deterioration (increase in the area of erosions/ulceration, increase in the amount of exudate, the level of inflammation and subjective estimation either increases or remains the same). Results. On the 14th day, 22 out of 58 (37.9 %) erosions were epithelized. The area of 15 erosions was reduced by more than 75 %. The area of 12 erosions (20.6 %) was reduced by more than 25 %, but less than 75 %. The area of 7 (12.25 %) erosions decreased by less than 25 %. The area of 2 erosions in patients with severe generalised recessive dystrophic epidermolysis bullosa (RDEB) increased (3.45 %). Out of 36 erosions that had not been epithelized by the 14th day, 20 (55.5 %) achieved complete healing by the 30th day. The dimensions and characteristics of 5 (13.8 %) nonhealing erosive-ulcerative defects had remained unchanged by the 30th day. The share of reduction in the area of these defects did not exceed 30 %. Conclusion. The obtained results demonstrate the clinical efficacy of external therapy using modern atraumatic nonadherent wound dressings. The dynamic observation of erosive-ulcerative defects, regular documentation of changes in the parameters of erosive and ulcerative defects allows the development of standardised approaches of efficient external therapy in such conditions, including the selection of non-adherent dressings. Objective assessment of the dynamics of erosive-ulcerative skin defects contributes to the development of individualized plans for treating EB patients.
Государственный научный центр дерматовенерологии и косметологии Министерства здравоохранения Российской Федерации 107076, Российская Федерация, г. Москва, ул. Короленко, д. 3, стр. 6 Врожденный буллезный эпидермолиз (ВБЭ) -клинически и генетически гетерогенная группа наследственных заболеваний кожи, характеризующаяся образованием пузырей и/или эрозий в ответ на незначительное механическое воздействие. В настоящее время этиопатогенетические методы лечения заболевания находятся на разных этапах клинических исследований, поэтому наружная терапия, включающая уход за пораженной и непораженной кожей, остается основным методом лечения. Цель терапии заключается в сокращении сроков заживления эрозивно-язвенных дефектов кожи и повышении качества жизни больных. В обзоре представлены клинические рекомендации по ведению больных ВБЭ, разработанные разными группами экспертов, которыми изложены методы лечения больных ВБЭ, основные принципы наружной терапии, купирования субъективных ощущений, и особые ситуации, которые могут встречаться при данной патологии. Ключевые слова: врожденный буллезный эпидермолиз, эрозии, язвы, неадгезивные повязки, перевязочные средства, раневые покрытия, уход за кожей, плоскоклеточный рак кожи Для цитирования: Карамова А. Э., Альбанова В. И., Мончаковская Е. С. Принципы ведения больных врожденным буллезным эпидермолизом. Вестник дерматологии и венерологии. 2019;95(4):24-30. Конфликт интересов: авторы заявляют об отсутствии потенциального конфликта интересов, требующего раскрытия в данной статье.Congenital epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of hereditary skin diseases characterized by the formation of blisters and/or erosions in response to minimal trauma. Etiopathogenetic methods for treating the disease are undergoing various stages of clinical research; therefore, external therapy implying caring for affected and non-affected skin remains to be the main treatment method. Such a therapy aims to reduce the healing period of erosive and ulcerative skin defects, thus improving the overall quality of patients' life. This review sets out to provide clinical recommendations for the management of EB patients developed by different groups of experts, which generalize methods for treating EB patients, main principles of external therapy and relieving subjective sensations, as well as to describe specific situations entailing this pathology.
Diffuse cutaneous leishmaniasis is a rare form of cutaneous leishmaniasis characterized by an inadequate immune response of the host cells to parasitic invasion (weak T-helper (Th)1 response or Th2 response with the production of interleukin (IL)-4 and IL-10). The characteristic features of the disease include diffuse nodular eruption, masquerading as leprosy and a frequent association with immunosuppression (HIV co-infection, for example). The Russian Federation is a non-endemic country for leishmaniasis, but this disease can be brought into the country by tourists, immigrants, refugees and military personnel. A clinical case of diffuse cutaneous leishmaniasis and HIV co-infection is presented. The patient was a citizen of Uzbekistan, a country endemic for leishmaniasis. The authors were unable to find domestic scientific publications describing cases of diffuse cutaneous leishmaniasis detected in the Russian Federation. The presented clinical case of diffuse cutaneous leishmaniasis in a patient with HIV is the first in the Russian literature.
The article describes a case of squamous-cell carcinoma in a female patient aged 30 suffering from a rare inherited disease -recessive dystrophic epidermolysis bullosa (RDEB). RDEB is characterized by a high risk of squamous cell carcinoma in young patients. The most frequent form is a highly differentiated form of cancer characterized by an aggressive course with the early development of metastases and fast progression, which is the most frequent cause of death in RDEB patients. The described case of squamous cell carcinoma in a young female RDEB patient emphasizes the role of early tumor diagnostics.
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a debilitating genodermatosis caused by pathogenic mutations in COL7A1 gene, which induce absence or reduction in the number of anchoring fibrils. The severity of RDEB manifestation depends on the mutation type and localization, but many aspects of this dependence remain to be elucidated. Here, we report a novel variant of intermediate RDEB for two unrelated patients, whose disease manifestation includes early skin and oral mucosa blistering and is associated with localized atrophic scarring. According to the exome and Sanger sequencing results, both investigated probands are the carriers of complex heterozygosity in COL7A1 gene and display the similar deletion in intron 19 of СOL7A1 gene. RT-PCR followed by sequence analysis revealed skipping of the part of exon19, as well as the rescue of the open reading frame (ORF) of COL7A1 in both probands. We hypothesize that the mutation in the acceptor splice site leads to the activation of the cryptic donor splice site, resulting in the truncated but partially functional protein and the milder phenotype of intermediate RDEB. This rare type of mutation expands our understanding of RDEB etiology and invites further investigation.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.