Types Of Epidermolysis Bullosa Research Articles

Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America

Children with epidermolysis bullosa (EB) comprise a rare population with high morbidity and mortality. An improved understanding of the clinical trajectory of patients with EB, including age at time of clinical diagnosis and major clinical events, is needed to refine best practices and improve quality of life and clinical outcomes for patients with EB. To describe demographics, clinical characteristics, milestone diagnostic and clinical events (such as initial esophageal dilation), and outcomes in patients with EB using the Epidermolysis Bullosa Clinical Characterization and Outcomes Database and to determine what characteristics may be associated with overall EB severity and/or disease progression. This cohort study included data on patients with EB who were enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2011, to June 30, 2017; 17 participating EB centers in the United States and Canada contributed data to this study. Type of EB, including recessive dystrophic epidermolysis bullosa (RDEB), junctional epidermolysis bullosa (JEB), dominant dystrophic epidermolysis bullosa (DDEB), and epidermolysis bullosa simplex (EBS). Demographic information, clinical characteristics (including age at onset of signs of EB and subsequent clinical diagnosis), types of diagnostic testing performed, and milestone clinical events for patients with RDEB. Of 644 enrolled patients from 17 sites included in this study, 323 were male (50.2%), with a mean (SD) age of 14.4 (11.7) years; 283 (43.9%) had RDEB, 194 (30.1%) had EBS, 104 (16.2%) had DDEB, and 63 (9.8%) had JEB. Signs of disease were present at birth in 202 patients with RDEB (71.4%), 39 with JEB (61.9%), 60 with DDEB (57.7%), and 74 with EBS (38.1%). For those with signs of disease at birth, a clinical diagnosis was made at the time of birth in 135 patients with RDEB (67.0%), 31 with DDEB (52.6%), 35 with EBS, (47.3%) and 18 with JEB (46.2%). Patients with JEB had the highest rate of any confirmatory testing (51 of 63 [81.0%]), followed by RDEB (218 of 283 [77.0%]), DDEB (71 of 104 [68.3%]), and EBS (100 of 194 [51.5%]). For all types of EB, both electron microscopy and immunofluorescence microscopy were performed at younger ages than genetic analysis. Among 283 patients with RDEB, 157 (55.5%) had esophageal dilation, 104 (36.7%) had gastrostomy tube placement, 62 (21.9%) had hand surgery, 18 (6.4%) developed squamous cell carcinoma, and 19 (6.7%) died. The findings suggest that diagnostic testing for EB is more common for patients with severe phenotypes. Earlier diagnostic testing may enable improved characterizations of patients so that appropriate counseling and clinical care may be offered, especially pertaining to milestone events for those with RDEB.

Epidermolysis bullosa-specific module of the Infants and Toddlers Dermatology Quality of Life (InToDermQoL) questionnaire.

Epidermolysis bullosa (EB) may have severe impact on different aspects of patients' life. Until now there was no EB-specific quality of life (QoL) instrument for young children. To create EB-specific proxy module of the Infants and Toddlers Dermatology Quality of Life (InToDermQoL) questionnaire. Focus groups with parents of children with EB were organized. Parents of EB children were interviewed by the project staff with regard to their perception of QoL issues of the skin disease of their children. Focus groups with parents of EB children in Ukraine and Romania were organized. Parents represented eight boys and 12 girls from 3months to 4years old with different EB types and disease severity. Based on the analysis of focus groups' results, two EB specific items that were not mentioned by parents of children with other skin diseases and therefore were not included to the dermatology-specific InToDermQoL questionnaire were developed: 'problems with defecation' and 'problems with shoes'. These problems were mentioned by 55% of all parents and 11.76% of parents that represented EB children older than 1year, respectively. We want to invite other centres and EB related organizations to join our project starting from the pilot test. There are many different reasons why QoL measurement is important in dermatology clinical practice and our goal is practical use of the instrument in children with EB.

Methods of Gene Therapy for Treatment of Inherited Epidermolysis Bullosa

Inherited epidermolysis bullosa (EB) is a heterogeneous group of rare genodermatoses with a high skin fragility manifested by the formation of destructive blisters and non-healing erosions on the skin and mucous membranes as a reaction to minor mechanical influences. There are three main types of EB: simple, junctional and dystrophic, each is caused by mutations in genes that encode epidermal, zones of the basement membrane or dermis proteins, respectively. The fourth type of EB is also described–hemidesmosomal or Kindler syndrome with impairments in kindlin-1 protein encoded by the FERMT1 gene. The existing ways to improve the living conditions of patients with EB are at different stages of development: some of them are already used in the clinic, while others are still under laboratory research. Various strategies are used, depending on the type of EB and the nature of mutation inheritance: from the functional gene replacement therapy based on the viral expression to the genome editing methods by programmable synthetic nucleases. The accumulated experience of allogeneic and autologous transplants of skin equivalents opens the prospect for using new approaches to functional gene and cell therapy ex vivo.

Epidermolysis bullosa: management complexities for paediatric patients.

a prospective case series and product evaluation of the Allevyn™ Gentle Border Lite dressing range was conducted, with four paediatric patients diagnosed with the following types of EB: recessive dystrophic (generalised severe), dominant dystrophic, simplex (generalised severe) and junctional (localised). Specialist EB nurses at Birmingham Children's Hospital conducted the evaluation and compiled the case series. Management and outcomes: clinical, patient and health economic outcomes were captured. The outcomes reported suggest an increase in dressing time wear and a reduction in dressing changes when comparing Allevyn Gentle Border Lite dressings to the patient's regular foam dressing regime. Furthermore, a cost saving measure could be shown. this small case series suggests that the use of the Allevyn Gentle Border Lite dressing range can positively impact the clinical, patient and health economic outcomes of paediatric EB patients.

Reliability and validity of the instrument for scoring clinical outcomes of research for epidermolysis bullosa (iscorEB).

Epidermolysis bullosa (EB) is a group of rare and currently incurable genetic blistering disorders. As more pathogenic-driven therapies are being developed, there is an important need for EB-specific validated outcomes measures designed for use in clinical trials. To test the reliability and construct validity of an instrument for scoring clinical outcomes of research for EB (iscorEB), a new combined clinician- and patient-reported outcomes tool. We conducted an observational study consisting of independent 1-day assessments (six assessors) at two academic hospitals. The assessments consisted of iscorEB clinician (iscorEB-c), Birmingham Epidermolysis Bullosa Severity (BEBS) and global severity assessment for physicians; and iscorEB patient (iscorEB-p), Quality of Life evaluation in Epidermolysis Bullosa and Children's Dermatology Life Quality Index for patients. Construct validity and intraclass correlation coefficients (ICCs) for interobserver, intraobserver and test-retest reliability were calculated. Overall, 31 patients with a mean age of 19·5 years (1·8-45·2) were included. Disease severity was mild in 42% of cases, moderate in 29% and severe in 29%. The interobserver ICC was 0·96 for both the clinician-reported section of iscorEB-c and BEBS. The ICC for intraobserver reliability was 0·91 and 0·70 for the skin and mucosal domains of iscorEB-c, respectively. Cronbach's alpha for iscorEB-c was 0·89. The test-retest reliability of iscorEB-p was 0·97 and Cronbach's alpha was 0·84. The clinical score differentiated between subjects with mild, moderate and severe disease, and both clinical and patient subscores discriminated between recessive dystrophic EB and other EB subtypes. iscorEB has robust reliability and construct validity, including strong ability to distinguish EB types and severities. Further studies are planned to test its responsiveness to change.

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.

Revertant mosaicism, or “natural gene therapy”, is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present in all patients with a specific subtype of recessive epidermolysis bullosa. We therefore hypothesized that revertant mosaicism should be expected at least in all patients with recessive forms of epidermolysis bullosa. Naturally corrected, patient-own cells are of extreme interest for their promising therapeutic potential, and their presence in all patients would open exciting, new treatment perspectives to those patients. To test our hypothesis, we determined the probability that single nucleotide reversions occur in patients’ skin using a mathematical developmental model. According to our model, reverse mutations are expected to occur frequently (estimated 216x) in each patient’s skin. Reverse mutations should, however, occur early in embryogenesis to be able to drive the emergence of recognizable revertant patches, which is expected to occur in only one per ~10,000 patients. This underestimate, compared to our clinical observations, can be explained by the “late-but-fitter revertant cell” hypothesis: reverse mutations arise at later stages of development, but provide revertant cells with a selective growth advantage in vivo that drives the development of recognizable healthy skin patches. Our results can be extrapolated to any other organ with stem cell division numbers comparable to skin, which may offer novel future therapeutic options for other genetic conditions if these revertant cells can be identified and isolated.

Nutritional outcomes in children with epidermolysis bullosa: long-term follow-up.

some types of epidermolysis bullosa (EB) have extracutaneous manifestations. Manifestations that limit food intake and absorption may compromise nutritional status and increasing nutritional requirements. to investigate the following nutritional status indicators: exclusive breastfeeding duration, problems caused by the introduction of complementary foods, birth weight and length, and growth curves of children with EB. assessment was based on the World Health Organization (WHO) growth charts. The anthropometric data were stored in the WHO's programs Anthro and Anthro Plus. three and seven of the ten study children had EB simplex (EBS) and recessive dystrophic EB (RDEB), respectively. Four of the children with RDEB had problems when complementary foods were introduced. The difference between the chronological age and age-for-height at the 25th (A/H 25th) percentile (p) varied from four months to four years and two months. Most children with RDEB (85%) had weight-for-age (W/A) curve below p3 and low height-for-age (H/A), starting before age four years. One child with EBS had excess weight. anthropometric birth data, exclusive breastfeeding duration, and problems caused by the introduction of complementary foods are useful information for establishing the nutritional profile of children with EB. Supposedly, breastfeeding and no complementary feeding problems were not enough to prevent inadequate nutritional status, observed in the majority of the study children. The original presentation of the growth curves of children with EB may help to determine nutritional involvement and to establish how these children grow. The evaluation of growth curves with WHO as a standard suggests the need to establish growth curves adapted to the most serious type of EB and the need for permanent nutritional monitoring.

Dystrophic Epidermolysis Bullosa

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.

Diagnosis of Inherited Epidermolysis Bullosa in Resource-Limited Settings: Immunohistochemistry Revisited

Background: Immunofluorescence (IFM) antigen mapping is the most commonly used technique to diagnose and differentiate epidermolysis bullosa (EB). In India, IFM is limited to few research laboratories and is not readily available, making the diagnosis largely clinical and often inaccurate. Ob jective of the Study: To examine the diagnostic usefulness of immunohistochemistry (IHC) as compared to IFM in resource-limited settings. Methods: Forty-four consecutive EB patients were included in this study. IHC and IFM were performed on 7-µm frozen tissue sections using standard laboratory protocols with a limited panel of antibodies. The kappa coefficient of agreement was calculated with genetic analysis as the gold standard. Results: IFM and IHC accurately identified the subtype of EB in 80.9% (p < 0.001) of the cases, when a clear blister cavity was evident on biopsy. The sensitivities and specificities of IHC and IFM for diagnosing EB simplex, junctional EB, and dystrophic EB were 100, 100, and 60% and 82.4, 100, and 100%, respectively. IHC was equally effective (p < 0.001) in establishing the type of EB as IFM. Conclusions: IHC staining and its interpretation were simple and comparable to IFM. IHC had an advantage of showing subtle changes in the epidermal architecture that could not be appreciated on IFM and hence can be considered useful in resource-limited settings.

Cardiomyopathy in Patients With Hereditary Bullous Epidermolysis

Background and objectiveIn recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. MethodsThis was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC. ResultsFifty-seven patients with EB were found, 19 with EB simplex, 10 with junctional EB, 27 with dystrophic EB (14 dominant dystrophic and 13 recessive dystrophic), and just 1 with Kindler syndrome. DC was detected in only 2 patients with recessive dystrophic EB. Twenty-three patients had presented factors that could have had a causal relationship with the potential onset of DC. ConclusionsDC is a possible complication of EB, particularly in recessive dystrophic EB. Periodic follow-up should be performed to make an early diagnosis and start treatment.

Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex

Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex

Renal-skin syndromes.

Renal-skin syndroms are a group of genetic disorders with renal and cutaneous manifestations that target molecular components present in both organs. Inherited renal-skin syndromes are mainly associated with defects of cell-matrix adhesion. We provide a non-exhaustive overview of the main molecular players at cell-matrix adhesions in mouse models and in human genetic disorders affecting kidney and skin. Renal and urinary tract involvement is described in all four major epidermolysis bullosa types and, in particular, in junctional subtypes and in recessive dystrophic epidermolysis bullosa. Here, we describe in detail those subtypes for which reno-urinary involvement is a constant and primary feature. Furthermore, complex multiorgan disorders with a predisposition to malignancies or attributable to metabolic defects that involve both kidney and skin are briefly summarized.

Miocardiopatía en pacientes con epidermólisis ampollosa hereditaria

Introduction and objectiveIn recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. MethodsThis was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC. ResultsFifty-seven patients with EB were found, 19 with EB simplex, 10 with junctional EB, 27 with dystrophic EB (14 dominant dystrophic and 13 recessive dystrophic), and just 1 with Kindler syndrome. DC was detected in only 2 patients with recessive dystrophic EB. Twenty-three patients had presented factors that could have had a causal relationship with the potential onset of DC. ConclusionDC is a possible complication of EB, particularly in recessive dystrophic EB. Periodic follow-up should be performed to make an early diagnosis and start treatment.

Retrospective evidence on outcomes and experiences of pregnancy and childbirth in epidermolysis bullosa in Australia and New Zealand.

BackgroundPregnancy in epidermolysis bullosa (EB) has not been comprehensively studied.ObjectiveWe aimed to develop a foundational database, which could provide peri-obstetric advice in EB.MethodsSurvey questionnaires were sent to obstetricians, unaffected mothers of EB babies, and mothers with EB. Results were analyzed using chi-square, Fisher exact, and t-tests.ResultsOut of 1346 obstetricians surveyed, 195 responded, and only 14 had encountered EB. All recommended normal vaginal delivery (NVD), except for one elective Caesarean section (CS). We received responses from 75 unaffected mothers who had delivered EB babies. They had significantly more complications in their EB pregnancies compared to their non-EB pregnancies. A further 44 women with various types of EB who had given birth responded. Most delivered via NVD and had no significant increase in complications in both their EB and non-EB pregnancies. In both groups, there were no significant differences in blistering at birth in babies delivered via NVD and CS.ConclusionIn conclusion, most patients with EB who are capable of giving birth do not have an increased risk for pregnancy-related complications and NVD appears to be safe. Awareness of this data amongst obstetricians and dermatologists should lead to improved quality of care for mothers and babies affected with EB.

Anesthetic Considerations in Pediatric Patients with Epidermolysis Bullosa: A Case Report

Epidermolysis bullosa (EB), a rare genetic disorder with abnormal fragility of skin and mucous membranes, is characterized by blister formation, either spontaneously or following a minor friction. In addition to the skin, it often involves other epithelial-lined organs requiring profound considerations in the anesthetic management related to some comorbidities. Monitoring, difficult airway, positioning, nutritional deficiencies and poor immunity can be challenging for the anesthesiologist in perioperative management. The authers described an experience of a 3-year-old male child with a dystrophic type of EB since birth who underwent hernioplasty. Perioperative careful management and minimal mandatory monitoring might be needed to minimize mechanical injury to the skin and mucous membranes.

Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis Bullosa.

In order to evaluate the serum anti-skin autoantibodies and cytokine concentrations in patients with different epidermolysis bullosa (EB) types and severity, 42 EB patients and 38 controls were enrolled. Serum anti-skin antibodies were significantly higher in the patients than in the controls (p = 0.008, p < 0.001, p < 0.001, p < 0.001 and p < 0.001 for desmoglein 1 (DSG1) desmoglein 3 (DSG3), bullous pemphigoid 180 (BP180), BP230 and type VII collagen (COL7), respectively). The same trend was observed for interleukin (IL)-1β, IL-2, IL-6, IL-10, tumor necrosis factor-β, and interferon-γ (p < 0.001, p < 0.001, p < 0.001, p = 0.008, p < 0.001 and p = 0.002, respectively). Increases in anti-skin antibodies and cytokine concentrations were higher in patients with recessive dystrophic EB than in those with different types of EB, in generalized cases than in localized ones, and in patients with higher Birmingham Epidermolysis Bullosa Severity (BEBS) scores than in those with a lower score. The BEBS score was directly correlated with BP180, BP230, COL7 (p = 0.015, p = 0.008 and p < 0.001, respectively) and IL-6 (p = 0.03), whereas IL-6 appeared significantly associated with DSG1, DSG3, BP180, BP230 and COL7 (p = 0.015, p = 0.023, p = 0.023, p = 0.015 and p = 0.005, respectively). This study showed that autoimmunity and inflammatory responses are frequently activated in EB, mainly in severe forms, suggesting the use of immunosuppressive drugs or biologicals that are active against pro-inflammatory cytokines to reduce clinical signs and symptoms of disease.

Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

BackgroundInherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Level of cleavage in the skin, clinical features with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy and/or gene involved, type(s) of mutation present and sometimes specific mutation(s), allow to define the EB type and subtype. This family of genodermatoses exposes patients to several complications, cutaneous squamous cell carcinoma (cSCC) being the most severe of them.ObjectiveThe aim of this systematic review was to document patients with EB who developed cSCC.MethodsA systematic literature search was performed, from inception to March 2014, using Medline, Embase, Cochrane and ClinicalTrials.gov databases. Only articles published in English and French were selected. The diagnosis of EB had to be confirmed by EM and/or IFM and/or mutation analysis, while cSCC had to be confirmed by histological analysis.ResultsOf 167 references in the original search, 69 relevant articles were identified, representing 117 cases. cSCCs were identified in all types of EB, though predominantly in recessive dystrophic EB (RDEB) forms (81 cases (69.2 %)). The median age at diagnosis was 36 years old (interquartile range (IQR), 27-48 years and range, 6-71 years) for all forms. Of those with measurements in the literature (88 cases (75.2 %)), tumor size was greater than 2 centimeters in 52 cases (59.1 %). The histopathological characteristics were specified in 88 cases (75.2 %) and well-differentiated forms predominated (73.9 %). No conclusion could be drawn on the choice of surgical treatment or the management in advanced forms.LimitationsThis study was retrospective and statistical analysis was not included due to various biases. This study design did not allow to infer prevalence, nor EB subtype risk for cSCC occurrence.ConclusionsOur study correlated with historical data shows that most of the cSCCs occurred in subjects with the RDEB subtype, however reports also show that cSCCs can present in any patients with EB. The first signs of cSCC developed at a younger age in EB patients than in non-EB patients. Interestingly, the cSCC duration, before its diagnosis, was shorter in individuals with RDEB than with junctional EB (JEB) and dominant dystrophic EB (DDEB).This study further emphasizes the importance of regular monitoring of EB patients, particularly with the RDEB subtype as they developed cSCC at a younger age.

Dilatation of esophageal strictures in epidermolysis bullosa patients: a single center experience

Esophageal stricture is one of the most common gastrointestinal complication in epidermolysis bullosa patients. We describe the technique of esophageal stricture dilatation, with a focus on safety and procedural modifications. Case series of 6 patients diagnosed with epidermolysis bullosa who underwent esophageal dilatation in our unit. Type of epidermolysis bullosa, patient’s age, dilatation technique, dysphagia free interval and complications were recorded. Four females and two males underwent a total of 31 dilatations during a 4-year follow-up. Most common dilatation technique was “through-the-scope” with three-stage baloons without radiology control, and in one case Savary bougi. Dilatation is usually done as an outpatient procedure with patients being discharged 3–4 h after the procedure. Mean dysphagia free interval is 7 months, longer is older patients. “Through-the-scope” baloons could be the best way to perform esophageal dilatation in epidermolysis bullosa patients. The procedure is short, safe with high success rate and dysphagia free interval and minimal complications.

Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment

Kindler syndrome, a distinct type of epidermolysis bullosa, is a rare disorder caused by mutations in FERMT1, encoding kindlin-1. Most FERMT1 mutations lead to premature termination codons and absence of kindlin-1. Here we investigated the molecular and cellular consequences of a naturally occurring FERMT1 mutation, c.299_301del resulting in a single amino acid deletion, p.R100del. The mutation led to a 50% reduction of FERMT1 mRNA and 90% reduction of kindlin-1 protein in keratinocytes derived from the patient, as compared with control cells. The misfolded p.R100del kindlin-1 mutant was lysosomally degraded and launched a homeostatic unfolded protein response. Sodium-phenylbutyrate significantly increased kindlin-1 mRNA and protein levels and the area of mutant cells, acting as a chemical chaperone and probably also as a histone deacetylase inhibitor. In a recombinant system, low levels of wild-type or p.R100del mutant kindlin-1 were sufficient to improve the cellular phenotype in respect of spreading and proliferation as compared with kindlin-1 negative keratinocytes. The study of this hypomorphic mutation provides evidence that low amounts of kindlin-1 are sufficient to improve the epidermal architecture and Kindler syndrome cellular phenotype and proposes a personalized chaperone therapy for the patient.

Dystrophic epidermolysis bullosa associated with congenital contractures of the upper and lower limbs: literature review

Epidermolysis bullosa (EB) is a rare hereditary disease. Its main feature is vesication and weeping sores (erosions) of the skin and mucous membranes, resulting from a minor injury. Clinical manifestations of the disease may vary from localized vesicles on the hands and feet to a generalized rash of the skin as well as lesions of the mucosa of the inner organs. At present, there are four main groups of EB: simple, intermediate, dystrophic, and Kindler syndrome. Mutations cause changes in the structure of the proteins responsible for the adhesion between layers of the dermis, leading to vesication. Treatment of EB is a challenge because of the lack of opportunities for the direct influence on the disease process, and its main purpose is to correct the existing cutaneous manifestations and prevent the occurrence of new elements. This article describes the main types of EB, methods of current diagnosis, and treatment of the disease as well as a clinical case of a rare combination of two severe disorders: 1) dystrophic EB and 2) arthrogryposis with upper and lower limb involvement.