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Copyright of Journal of the Argentine Society of Dermatology / Revista de la Journal Sociedad Argentina de Dermatología is the property of Editorial Biotecnologica S.R.L and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction. Epidermolysis Bullosa, also known as "Butterfly Skin", is a "rare and orphan" autoimmune disease that affects the genetic structure of the epidermis, causing the formation of blisters and skin retractions. People who suffer from it, most of the time, suffer from rejection and isolation. Objective. Design an information booklet on Epidermolysis Bullosa for the basic education educational community of the department of Boyacá. Materials and methods. Qualitative approach study, descriptive, interpretive and analytical in nature that followed the parameters of the PRISMA (2020) systematic reviews. It was developed in 3 stages. 1. Bibliographic search in open access databases such as Scielo, Scopus, Dialnet and Redalyc, among others, with search equations. 2. Systematization of more than 70 articles. 3. Selection of information to fulfill the objective. Results. Research seeks ways to relieve symptoms and prevent complications. For its treatment, a multidisciplinary approach is necessary that includes dermatologists, psychologists, physiotherapists and nutritionists, among other health professionals, as well as education, to address the physical and emotional challenges that patients face, especially in the early years. Conclusions. The challenges focus on early diagnosis, a fundamental aspect for the initiation of treatment; and health strategies aimed at the care and control of the disease. It is necessary for school communities to inform themselves, not to stigmatize and isolate those who suffer from it; From the psychological aspects, support for both those affected and their families is essential. [ABSTRACT FROM AUTHOR]

Copyright of Cogitare Enfermagem is the property of Cogitare Enfermagem and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Bullous epidermolysis is a hereditary and chronic genodermatosis, characterized by mucocutaneous fragility in minimal trauma, classified according to the dermal-epidermal level where acantholysis occurs in simple, junctional, dystrophic and Kindler's disease (1, 2). Objective: Describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa, linked to the DEBRA Colombia foundation.. Materials and methods: An observational, descriptive, and retrospective cross-sectional study, where the patients evaluated in DEBRA were characterized during the period between 2009 and 2019. Results: 104 patients were identified, with a male/female ratio of 1:1.5, most of them aged between 13 and 18 years at the time of the study. 63.5% of the patients were active at the cut-off date. 51.9% belonged to strata 1 and 2, and 14.4% belonged to strata 3 and 4. 34.6% of the patients belonged to the contributory regimen and 35.6% to the subsidized regimen. Forty-seven percent of the patients present the dystrophic form; the most important diagnostic method was clinical, presenting genetic confirmation only in 31.7%. The most frequent mutation was c.6781C>T,p. Arg2261Ter, mainly associated with COL7A1 deficiency. Conclusions: We present the largest number of patients reported with epidermolysis bullosa in Colombia; the most frequent subtype reported was the dystrophic form in the population studied. Only a third of the analyzed sample had a genetic diagnosis. In addition to skin involvement, most patients have involvement of the oral cavity, hematological digestive tract, nutrition, and others. [ABSTRACT FROM AUTHOR]

Copyright of Kranion is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

epidermolysis bullosa (EB) is a heterogeneous group of inherited mechanobullous diseases characterized by varying degrees of cutaneous and mucosal fragility caused by mutations affecting structural skin proteins (1, 2, 3). As a consequence of these, blisters and vesicles are formed after minimal trauma or friction forces, with variable involvement of other organs. As it is a rare condition, this article presents the case of a four-year-old girl diagnosed with epidermolysis bullosa. The case report was made by means of the observation of a phenomenon, under the case study methodology, analyzing clinical, laboratory and histopathological variables. The physical findings found in the patient coincide with those reported by Torres-Iberico et al. (8), where the appearance of blisters predominates. For the diagnosis of the disease in this case it was necessary to perform a skin biopsy. In conclusion, a multidisciplinary approach to patient intervention is recommended. This is based on the protection of tissues potentially subject to injury, the application of sophisticated bandages, generous nutritional support and, if possible, early treatment or surgical interventions to correct extracutaneous complications. [ABSTRACT FROM AUTHOR]

Pyloric atresia is a rare digestive malformation. It represents about 1% of intestinal atresias and is associated with some other genetic or anatomical alteration in 55% of the cases. In 20% of them, it is associated with epidermolysis bullosa, which is described as an established syndrome with a bad prognosis. We present two cases of consecutive siblings with this condition and fatal outcomes in both of them. We made a review of the literature and discussed the main topics. [ABSTRACT FROM AUTHOR]

Copyright of Universidad Médica Pinareña is the property of Editorial Ciencias Medicas and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Epidermolysis bullosa (EB) is a genodermatosis caused by mutations in the proteins of the dermal-epidermal junction, altering the epithelial cohesion, and generating blisters and shedding of skin and mucous membranes. Objective: To describe the demographic and clinical characteristics, as well as the main complications of patients with EB attended at the National Institute of Pediatrics, in Mexico City. Method: An observational, descriptive, retrospective and cross-sectional study was conducted in patients under 18 years of age with diagnosis of EB. Patients with incomplete, purged or archived records were excluded. Results: We included 35 patients, 17 men and 18 women with an average age of 8.94 ± 4.9 years. Patients were classified as dystrophic EB (71.4%), EB simplex (17%), junctional EB (2.9%) and Kindler syndrome (2.9%). All patients presented skin manifestations, followed by manifestations in oral mucosa (74.3%), nutritional (54.2%), gastrointestinal (51.4%), hematological (40%), ophthalmological (37.1%), musculoskeletal (34.2%) and psychosocial symptoms (34.2%). The degree of severity was variable according to the subtype; junctional EB and dystrophic EB are those that generate greater affection and comorbidity. Conclusions: EB is a serious multisystem genetic disease, which is why it requires an early diagnosis and a timely detection of complications. [ABSTRACT FROM AUTHOR]

BACKGROUND: The epidermolysis bullosas are a group of hereditary diseases in which the mechanic fragility of epithelial tissue produces blisters, repetitive ulcerations and scarring, as well as several multiorgan and psychosocial complications. OBJECTIVE: To determine the economic cost for medical care in patients with recessive dystrophic epidermolysis bullosa within their prototypical hospital stay, as well as within a year of ambulatory caregiving at the Epidermolysis Bullosa Clinic at the National Institute for Pediatrics in Mexico City (INP). MATERIAL AND METHOD: A prototypical case of an eight-year-old patient diagnosed with recessive dystrophic epidermolysis bullosa was selected and the costs of the most recent hospitalization at INP were calculated, along with other costs produced during a year of care (2016-2017) at the Epidermolysis Bullosa Clinic. RESULTS: The final cost for hospitalization were between 194,757.38 and 345,402.55 Mexican pesos, according to calculations based on medicine prices from the social security system and out-of-hospital pharmacies, respectively. The cost of medicines represented the highest input within the total. The final cost of a year of ambulatory care given by the Epidermolysis Bullosa Clinic was of 604,927.25 Mexican pesos, of which special dressing products represented the highest cost entry. CONCLUSIONS: Epidermolysis bullosa generates high economic cost for patients and health care systems in the short and long term, due to permanent need of multiple medicines, utensils and specialized medical assistance, all of these costs that most of the Mexican population cannot afford. [ABSTRACT FROM AUTHOR]

Objectives. To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease. Materials and methods. Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. Results. 93 patients were registered. The average age was 7.9 ± 5.6 years; 53.8% (n=50) were boys. Clinical forms corresponded to dystrophic EB with 41 (44.1%) cases, simple EB with 39 (41.9%) union EB cases with 8 (8.6%) and Kindler syndrome with 4 (4.3%) cases. The clinical form could not be identified in a case. A total of 48 cases (51.6%) came from Lima and Callao and 45 cases (48.4%) from other provinces of the country. Extracutaneous manifestations involved gastrointestinal (44.1%), ocular (37.6%), odontogenic (87.1%) and nutritional (79.6%) involvement, as well as pseudosindactilia (16.1%). Chronic malnutrition (71.6%), acute malnutrition (17.6%) and anemia (62.4%) were found. Mortality corresponded to 6 cases (6.5%). Conclusions. 93 cases of EB were reported in INSN, the predominant clinical presentation was the dystrophic form. [ABSTRACT FROM AUTHOR]

Epydermolisis bullosa is part of a group of non-infectious and non-contagious inherited diseases which courses with different presentations from mild to severe forms. It is characterized by skin and mucosa affections due to a disturbance of the proteins of the epidermodermic joins which alter cohesion in both skin layers. As a consequence blisters and vesicles are formed after minimum traumas of frictions, with the variable incidence to other organs. Due to the scarce appearance of the disease it has been decided to present the case a four years old girl with the diagnosis of epydermolisis bullosa. [ABSTRACT FROM AUTHOR]

Bart's syndrome is an infrequent congenital disorder characterized by the association of epidermolysis bullosa, localized congenital skin absence, and occasional nail abnormalities. In this report, we describe the case of a male newborn that was sent to the Children's Hospital at the Maternal and Child Institute of the State of Mexico to receive assessment. At his arrival medical examination revealed extended blisters and localized congenital skin absence in lower limbs at birth. After treatment the patient experienced notorious improvement and a favorable clinical evolution. [ABSTRACT FROM AUTHOR]

The epidermolysis bullosa is an infrequent disorder, with a prevalence of 0,5 - 1 per million of inhabitants comprising a group of genetic changes characterized by bullous lesions in the skin and mucosa, which diagnosis requires of the use of molecular biology and inmunohistochemical techniques. For such effects, an exhaustive review was carried out with the aim of deepening in the clinical, genetic and epidemiological characteristics of this disease and its influence on the oral cavity, as well as in some punctual aspects related to the topic. [ABSTRACT FROM AUTHOR]

Background: Epidermolysis bullosa (EB) or "crystal skin" is a group of inherited disorders that affect the protein that forms the anchor between dermis and epidermis, producing blister injuries. Case report: We report a four years old boy with junctional EB and lesions in 80% of the body lasting 48 months. His right lower limb was treated with allogeneic human cultured queratinocytes during five weeks. After the treatment period, a re-epithelization of 90% of the intervened limb was observed. Its diameter increased from 23 to 27 cm, the wound assessment scale score decreased from 30 to 13 and the visual analogue pain assessment score decreased from eight to two. Therefore allogeneic human cultured queratinocytes are a novel therapeutic alternative for EB. [ABSTRACT FROM AUTHOR]

Epidermolysis bullosa is a group of inherited disorders characterized by blistering of the skin and mucous membranes as a result of friction or minor trauma. Clinical, genetic and histopathological criteria are involved in its diagnosis, distinguishing between simple (SEB), junctional (JEB) and dystrophic (DEB) forms. Among them, the junctional forms, especially de Herlitz JEB type and the one associated with pyloric atresia, pose a major challenge to the anaesthetist, given the high comorbidity. We report the case of a newborn diagnosed with Herlitz epidermolysis bullosa, taken to nasojejunal transanastomotic tube placement due to congenital intestinal obstruction. We focused on the main features in the anaesthetic management of these patients considering the preparation of the monitoring and surgical equipment to prevent skin damage by friction and the difficulties establishing venous accesses and airway management. [ABSTRACT FROM AUTHOR]

Epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is a rare autosomal dominant genodermatosis, although up to 50% of cases represent new mutations. Epidermolytic hyperkeratosis presents as a bullous disease in newborns, followed by a lifelong ichthyotic skin disorder. Diagnosis is based on the clinical manifestations and the histological features. Treatment is symptomatic, with topical emollients being the mainstay of treatment. The prognosis is usually good; nevertheless, some patients may present hand contractures that impair function. We present the case of a 4-year-old male patient with epidermolytic hyperkeratosis, initially diagnosed as atopic dermatitis. A review of the literature is made. [ABSTRACT FROM AUTHOR]

Copyright of Iatreia is the property of Universidad de Antioquia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista ADM is the property of Asociacion Dental Mexicana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Acta Pediátrica Española is the property of Ediciones Mayo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Iatreia is the property of Universidad de Antioquia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of CES Medicina is the property of Universidad CES and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of CES Medicina is the property of Universidad CES and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Cytokeratins are proteins that belong to the intermediate-filament group. Their function is to mantain the epithelial structure, to protect from mechanical trauma and to communicate adjacent cells and cytoplasmic structures. There are 37 genes involved in the expression of cytokeratins. These genes are codified in chromosomes 12 and 17. There are two groups, acidic or type I cytokeratins and neutral-basic or type II cytokeratins. Their expression is in pairs, one of each group. Each cytokeratin has different expression patterns according to its localization. If there are any structural defects that change such organization, disease presents. The most common disorders associated are bullous epidermolysis and epidermolytic hyperkeratosis. Future research focus on their function as tumoral markers and regulatory function. [ABSTRACT FROM AUTHOR]

Congenital epidermolysis concern a group of pathologies of hereditary character, showing a dysfunction of skin epidermal coherence, usually manifested as blisters of spontaneous appearance or occurring after minimal traumatism after birth or during childhood. The clinical case had the following features: newly born, preterm, female baby whose mother was 26 years old, III gestation, II deliveries. Clinical case came from a not properly controlled pregnancy, 33 weeks gestation, complicated with premature amniotic membranes leakeage of 4 days evolution, obtained by Caesarean section. The new born neither cried nor spontaneously breathed after delivery, so required tactile stimulation; Apgar score: 8, and showing blister skin lesions, some of them descamative, erythematous or hemorrhagic. The patient was entered at the new born pathological room and after 3 days of evolution was evaluated by a pediatric dermatologist that reported recessive blistering dystrophic epidermolysis. The patient received antibiotic therapy and general therapeutic assistance After 18 days hospitalization she was discharged because of good clinical outcome confirmed. [ABSTRACT FROM AUTHOR]