EB Patients Research Articles

Wilms’ tumor 1 expression combined with genetic mutations for prognostic assessment in MDS

Overexpression of Wilms’ tumor (WT1) is frequently observed in myelodysplastic syndrome (MDS), which has been proposed as a prognostic marker. However, the prognostic role of WT1 expression in different contexts remains to be fully elucidated. We retrospectively assessed the relationships between WT1 levels and preexisting prognostic factors to further investigate its prognostic role under different contexts. In our study, WT1 expression was positively correlated with WHO 2016 classification and IPSS-R stratification. Lower WT1 expression was found in relation to TET2, TP53, CD101, or SRSF2 mutations, while mutant NPM1 patients possessed higher level. Notably, WT1 overexpression maintained its inferior prognostic effect on overall survival (OS) in TP53-wild patients but not in TP53-mutated group. In multivariate analysis, higher WT1 expression was a risk factors for OS in EB patients without TP53 mutations. Overall, WT1 expression was useful to predict prognosis for MDS and its prognostic role was impacted by some gene mutations.

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

BackgroundEpidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases characterized by skin fragility. Primary data on Taiwanese population remain scarce.MethodsWe gathered clinical information from EB patients at National Cheng Kung University Hospital from January, 2012, to June, 2021. Diagnostic tests including transmission electron microscopy, immunofluorescence studies, and whole-exome sequencing (WES) were performed. The pathogenicity of novel splice-site mutations was determined through reverse transcriptase-PCR of skin mRNA followed by Sanger and/or RNA sequencing.ResultsSeventy-seven EB patients from 45 families were included: 19 EB simplex, six junctional EB, and 52 dystrophic EB. Pathogenic variants were identified in 37 of 38 families (97.4%), in which WES was used as a first-line tool for mutational analysis; RNA sequencing determined pathogenic variants in the remaining one family. A total of 60 mutations in EB-related genes were identified, including 22 novel mutations. The mutations involved KRT5, KRT14, PLEC, COL17A1, LAMB3, LAMA3, ITGB4, and COL7A1. Over one-quarter of DEB patients had EB pruriginosa.ConclusionsThe distinct clinical presentation and molecular pathology of EB in Taiwan expand our understanding of this disorder. WES was an effective first-line diagnostic tool for identifying EB-associated variants. RNA sequencing complemented WES when multiple potentially pathogenic splice-site mutations were found.

Transition of care in patients with epidermolysis bullosa: A survey study.

There are little published data on the transition of care in EB. We conducted a survey study recruiting EB patients from the Dystrophic EB Research Association (debra) website and centers caring for high numbers of EB patients in the United States and internationally from Sept 17, 2019 to Nov 3, 2021. The majority of participants had not discussed the transition of care with their healthcare providers, nor the healthcare needs to be required as an adult. Ongoing pediatric subspecialty care was reported by 12% of adults, most commonly in pediatric dermatology. Identified barriers to transition included the perceived lack of adult providers' knowledge about EB patient healthcare needs. The results suggest the need for transition guidelines, early discussions with families about transition, and practical information for the adult providers accepting care.

Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center

BackgroundEpidermolysis bullosa (EB) is a disabling and chronic genodermatosis characterized by mucocutaneous fragility with blister formation after minimal trauma. Severity ranges between very mild forms to extremely severe or lethal subtypes. Depending on disease subtypes, blisters may be localized also in larynx, bladder, esophagus, and most frequent disease complications are malnutrition, chronic anemia, osteoporosis, limb contracture and early development of squamous cell carcinomas. EB is classified into four major groups: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler EB (KEB). No specific treatment is available; however, a multidisciplinary management is mandatory in order to treat the lesions, to prevent complication, and to give a psychological support to the patient and family members.ObjectiveTo report the experience on a therapeutic education plan of an Italian reference center for epidermolysis bullosa in the last 30 years.MethodsIn our study we included all patients with EB from 1990 to the present, dividing them into three age groups (< 5 years, > 5–12 years and > 12–18 years). The therapeutic plan involved all multidisciplinary team members, since born until adolescence. The multidisciplinary team has been progressively established; the dermatologists act as patient case manager, in collaboration with the pediatrician, endocrinologist, dietician, dentist, plastic surgeon, digestive surgeon, geneticist, psychologist and a dedicated nurse. Other dedicated specialists are involved upon patient needs.ResultsTwo hundred fifteen patients have been recruited and followed in our hospital since 1990. One hundred forty patients (65%) are on follow-up, 27 patients (13%) died and only 11 (5%) were lost to follow-up. Our patients manifested the specific complications related to their EB subtype in keeping with the data reported in the literature. Eighteen (8%) patients affected with JEB severe died within the first year of life, 9 patients (5%) died for squamous cell carcinoma in adulthood and were affected with recessive DEB; only 1 patient died for squamous cell carcinoma at the age of 16.ConclusionsAn adequate management of EB patients require a multidisciplinary approach with an educational plan to guarantee an appropriate treatment and to support and accompany patients and their families since birth along life. The dynamic educational plan adopted in our hospital showed good clinical and psychological outcome in our population, allowing adherence to treatment, reducing the frequency of complications and improving life expectancy and quality of life.

New insight of itch mediators and proinflammatory cytokines in epidermolysis bullosa

AbstractObjectivesEpidermolysis bullosa (EB) is a hereditary disorder characterized by mechanical stress‐induced blistering. The presence of extracutaneous complications such as cardiomyopathy and renal disease observed in severe EB subtypes and the fact that pruritus is a common symptom across all EB subtypes indicate that EB is not only a skin fragility disease but also a systemic inflammatory disorder. Our study aims to elucidate the basis of the systemic inflammation seen in EB patients.MethodsWe analyzed serum samples of 20 EB patients by Luminex bead‐based cytokine assays and enzyme‐linked immunosorbent assays.ResultsThe serum levels of sIL‐2R, IL‐6, HGF, M‐CSF, SCGF‐β, IL‐8, IL‐16, IFN‐γ, MIF, MIP‐1α, and thymic stromal lymphopoietin (TSLP) (p &lt; .01, p &lt; .01, p &lt; .01, p &lt; .01, p &lt; .01, p &lt; .05, p &lt; .05, p &lt; .05, p &lt; .05, p &lt; .05, and p = .01, respectively) were found to be significantly elevated in EB patients, whereas TNF‐β (p &lt; .01) was decreased. Th2 cytokines including IL‐4, IL‐5, and IL‐13 were not elevated in EB patients. In contrast, TSLP was significantly increased, and IL‐31 and oncostatin M were not statistically significant but tended to be higher in the patients than in healthy controls. Among proinflammatory cytokines such as IL‐1β, IL‐6, and TNF‐α, IL‐6 was elevated in EB patients.ConclusionsThe imbalance of several itch mediators and proinflammatory cytokines was identified. Biologics targeting the cytokines found to be elevated in the sera of patients is considered as a beneficial treatment option for EB.

Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study

BackgroundEpidermolysis bullosa (EB) patient anecdotes and case reports indicate that cannabinoid-based medicines (CBMs) may alleviate pain and pruritus and improve wound healing. CBM use has not been characterized in the EB patient population.ObjectivesTo evaluate CBM use among EB patients, including CBM types, effects on symptoms (e.g., pain and pruritus), disease process (e.g., blistering, wounds, and inflammation), well-being (e.g., sleep, appetite) and concomitant medications.MethodsEnglish-speaking EB patients or caregivers completed an online international, anonymous, cross-sectional survey regarding CBM use. Respondents reported the types of CBMs, subsequent effects including perceived EB symptom alteration, changes in medication use, and side effects.ResultsSeventy-one EB patients from five continents reported using or having used CBMs to treat their EB. Missing question responses ranged between 0 (0%) and 33 (46%). Most used more than one CBM preparation (mean: 2.4 ± 1.5) and route of administration (mean: 2.1 ± 1.1). Topical and ingested were the most common routes. Pain and pruritus were reported retrospectively to decrease by 3 points (scale: 0–10; p < 0.001 for both) after CBM use. Most reported that CBM use improved their overall EB symptoms (95%), pain (94%), pruritus (91%) and wound healing (81%). Most participants (79%) reported decreased use of pain medications. The most common side-effect was dry mouth (44%).ConclusionsCBMs improve the perception of pain, pruritus, wound healing, and well-being in EB patients and reduced concomitant medication use. Nevertheless, a direct relation between the use of CBMs and reduction of the above-mentioned symptoms cannot be proven by these data. Therefore, future controlled studies using pharmaceutically standardised CBM preparations in EB are warranted to delineate the risks and benefits of CBMs.

Epidermolysis Bullosa Registry Data in Iran.

BACKGROUNDIn many countries, there is no registry system to record data for Epidermolysis Bullosa patients. However, the first steps for establishing a registry system have been taken in Iran. Therefore, we decided to publish it for the first time.METHODSThis was a prospective cross-sectional study. Data was obtained from 538 patients consecutively enrolled in the Iranian Epidermolysis Bullosa Registry, using a detailed instrument created by burn research center of Iran University of Medical Sciences, Tehran, Iran from Jan 2017 to Sep 2017. Patients’ information such as age, gender, address, educational status, parents’ family relationship and pathology result were recorded. Then a physician examined patients focusing on gastrointestinal system, teeth, ophthalmologic disorders, psychological problems and contracture of the upper and lower limbs and any other complaint. Data entered SPSS ver.19 and analyzed using ANOVA and LSD tests.RESULTSOverall, 538 EB patients were registered in Iran (6.72 patient in 100.000 person) with an approximately equal ratio between males and females. Among 103 patients whose disease type was determined by a pathologist, 78 patients (75.7%) had dystrophic type, 13 (12.6%) junctional, 9 (8.7%) simplex and 3 (2.9%) kindler type. The most common complaint of patients was dysphagia followed by tooth damage.CONCLUSIONWe stablished a data registry for EB patients for the first time in Iran. The frequency of EB in Iran is less than many other countries. However, data completion is to be done to include all patients as possible.

LB732 Intravenous gentamicin therapy in adult junctional and recessive dystrophic Epidermolysis Bullosa with nonsense mutations does not result in sustained clinical improvement

Nonsense mutations lead to premature termination codons and are present in ∼15-20% of junctional (JEB) and recessive dystrophic EB (RDEB) patients. Gentamicin allows PTC readthrough to restore protein production and reverses phenotype. While topical gentamicin has shown to be efficacious for EB patients with nonsense mutations, systemic infusion could help the generalized nature of the disease. In this study, two RDEB and one JEB adult patients were given IV gentamicin (7mg/kg/day, once daily) for 2 weeks.

The severity of malnutrition in children with epidermolysis bullosa correlates with disease severity

WHO defines malnutrition as severe if the z-scores are less than − 3 Standard deviation (SD), moderate if between − 2 and − 3 SD and mild if between − 2 SD to – 1 SD. This study was aimed to assess nutritional aspects of Indian children suffering from EB and to evaluate the effect of severity of EB on the severity of malnutrition. In this study, pediatric EB patients were evaluated prospectively for baseline nutritional status using anthropometric parameters and WHO growth charts, and its correlation with disease severity using instrument for Scoring Clinical Outcomes for Research of Epidermolysis Bullosa-iscorEB. In second phase, an individualized diet chart was given to meet the energy, protein and micronutrients needs and its effects were observed after 6 months. The median age of participants was 3 years (IQR-9). Of 57 patients, malnutrition was seen in 40.35% patients (22.81%-moderate and 17.54%-severe), and significantly correlated with iscorEB (r = 0.45, p < 0.0001). On bivariate regression analysis, iscorEB was independently associated with moderate-to-severe malnutrition (p = 0.047; OR 1.038, CI 1.011–1.066). iscorEB enabled the identification of patients with moderate-to-severe malnutrition with an Area Under Receiver Operating Curve (AUROC) of 0.72 (95%CI 0.58–0.85; p < 0.005). In phase 2, there was significant improvement in nutritional status in children with recessive dystrophic EB (RDEB) and dominant dystrophic EB (DDEB) subtype (p < 0.0001). The severity of malnutrition in EB children significantly correlates with disease severity, and is an independent predictor of moderate-to-severe malnutrition.

Impaired Mitochondrial and Metabolic Function of Fibroblasts Derived from Patients with Recessive Dystrophic and Junctional Epidermolysis Bullosa

Background: Recessive dystrophic epidermolysis bullosa (RDEB) and junctional EB (JEB) are inherited disorders characterised by fragility and blistering of epithelial tissues leading to pain, pruritus, and adherent scarring. The severity and chronic nature of the resultant skin wounds significantly reduces quality and length of life. Current therapies primarily consist of protective bandaging and nutritional supplementation; there is no cure for these disorders. Although the skin fragility results from a lack of C7 protein (RDEB) and laminin-332 (JEB), other serious aspects of these disorders, such as inflammation that interferes with healing and aggressive squamous cell carcinoma, have not been completely elucidated. Recent research has suggested that mitochondrial function plays a significant role in skin healing. Objective: To evaluate how mitochondrial function differs in patients with RDEB and JEB. Method: The energy status of RDEB and JEB patient-derived fibroblasts was determined by Seahorse analysis and metabolite production. The energetics and overall morphology of RDEB and JEB patient-derived fibroblasts were assayed as a measure of metabolic stress. Results: EB patient-derived fibroblasts showed impaired oxidative phosphorylation with concomitant compensation by glycolysis. Morphological parameters were altered in RDEB and JEB fibroblasts compared with controls. Conclusion: This is the first study to describe changes in mitochondrial energy metabolism, metabolic profile, and mitochondrial morphology of EB patients.

Profiling trial burden and patients\u2019 attitudes to improve clinical research in epidermolysis bullosa

BackgroundEpidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality. While current treatments are symptomatic, a growing number of innovative therapeutic compounds are evaluated in clinical trials. Clinical research in rare diseases like EB, however, faces many challenges, including sample size requirements and recruitment failures. The objective of this study was to determine attitudes of EB patients towards clinical research and trial participation as well as the assessment of contextual motivating and discouraging factors in an effort to support patient-centered RD trial designing.MethodsA 53-items questionnaire was handed over to EB patients (of all types and ages) in contact with the EB House Austria, a designated national center of expertise for EB care. Main categories included level of interest in and personal knowledge about clinical studies, pros/cons for participation and extent of individual expenses considered acceptable for participation in a clinical study. Descriptive subgroup analysis was calculated with SPSS 20.0 and Microsoft Excel.ResultsThirty-six individuals (mean age 25.7 years), diagnosed for recessive dystrophic EB (36.1%), EB simplex (33.4%), junctional EB (8.3%), dominant dystrophic EB (2.8%) and acral peeling syndrome (2.8%) participated. Motivation for participation in and the desire to increase personal knowledge about clinical trials were (outmost) high in 57.2 and 66.7%, respectively. Altruism was the major motivating factor, followed by hope that alleviation of the own symptoms can be achieved. The greatest hurdle was travel distance, followed by concerns about possible adverse reactions. Patients diagnosed for severe subgroups (RDEB, JEB) were more impaired by the extent of scheduled invasive investigations and possible adverse reactions of the study medication. Patients with generally milder EB forms and older patients were accepting more frequent outpatient study visits, blood takes, skin biopsies and inpatient admissions in association with trial participation.ConclusionsThis study provides additional indications to better determine and address attitudes towards clinical research among EB patients as well as guidance to improve clinical trial protocols for patient centricity.

Some features of perception of change in quality of life of patients with epidermolysis bullosae during quarantine due to COVID-19

In the context of COVID-19 pandemic, patients with serious chronic somatic pathologies were the most vulnerable. Such risk groups include patients with epidermolysis bullosae EB. For this category of patients it is rather an opportunity to more or less realistically and comprehensively assess individual components of their physical (somatic), psychological, social life. We believe that the indicators of quality of life of patients determine not so much the severity of the pathological process, but how they psychologically tolerate and are aware of their disease and the resulting realities of life and prospects.Objective — to assess the impact of long-term quarantine of patients with EB on quality of their life by HADS, VAS, МОS SF-36 scales. Materials and methods. The study of quality of life was conducted on the basis of the classical approach to quantitative assessment of the subjective state developed by Stevens-Galanter in 1957. The respondent himself assessed his own condition depending on the indicators defined in the text of the questionnaire: physical (strength, energy, fatigue, pain, discomfort, sleep, rest); psychological (positive emotions, memory, concentration, self-esteem, appearance, negative feelings), level of independence (daily activity, efficiency, dependence on treatment and medication); social life (relationships, social value of the subject, sexual activity); environment (well-being, safety, life, quality and accessibility of medical and social services, availability of information, opportunities for education and training, leisure); spirituality (religion, personal beliefs).Results and discussion. The information obtained during re-testing of EB patients (during quarantine) and its analysis allowed us to assess unequivocally and objectively the changes in the psychological assessment, reveal the somatic lesions of the skin, eyes, nails, larynx, mouth and their attitude to public life, the environment, the level of anxiety and the degree of mental stress.Conclusions. A significant negative impact of the long time self-isolation on quality of life of patients with EB has not been found, due to the fact that patients in quarantine, due to the specifics of their pathology, did not often directly contact with other people outside their family. Such restriction in intimate communication for them did not become something psychologically and socially significant. A round-the-clock stay of both patients and their family members at home led to a sharp «reduction» in the social distance between them, contributed to a marked increase in their sense of security, improved, levelled up direct communication, everyday quality of life. Quarantine sharply and psychologically unexpectedly limited the possibilities of personal contacts and thereby almost equalled in time and frequency the remote contacts of patients with EB and healthy people.

Transplantation of a New Biological Product in Rare Diseases, Such as Epidermolysis Bullosa: Response and Clinical Outcome

BackgroundEpidermolysis bullosa (EB) is a phenotypically diverse group of hereditary blistering disorders involving mutations in 20 different genes. Those debilitating disorders are currently incurable; however, there are a number of promising preclinical trials, where some treatments already approach the stage of early clinical trial. In this paper we introduce a novel surgical approach to the treatment of EB-induced ulcerations.The purpose of our study was to evaluate the safety and efficacy of a new biological dressing in the form of an allogenic human skin equivalent graft before using multipotent stem cells, classified as an advanced therapy medicinal product. MethodsImplanted human acellular dermal matrices were prepared from the superficial layers of donated human skin. Scaffold sterilization was conducted via irradiation with the use of a linear electron accelerator. Following water-knife debridement, wounds were surgically covered with accordingly prepared grafts and dressed in burn-injury fashion. Subsequently, the wounds were monitored for infection and viability. ResultsOur data indicate that grafting as a potential new medicinal product was safe and effective in patients with rare diseases, such as EB, and may be used for stem cells to create new Advanced Therapy Medicinal Products. During a 200-day follow-up, we proved the safety of using human scaffolds (allogeneic graft) by observing no apparent infection or necrosis. Instead, we noted fewer required dressing changes, promoted wound healing, pain reduction, and an overall improvement in the quality of life in patients with EB. ConclusionThe protocol for grafting allogenic acellular epidermal sheets is the most promising treatment for severely affected skin areas in EB patients to date.

307 Homozygous Biallelic KRT5 Mutations in Epidermolysis Bullosa Simplex, Including a Complete Human Keratin 5 “Knock-Out”, in Families with Extensive Consanguinity

Epidermolysis bullosa simplex (EBS) is usually inherited as an autosomal dominant disease due to monoallelic gain-of-function mutations in the KRT5 and KRT14 genes. Although autosomal recessive forms of EBS have been associated with mutations in at least 10 genes, recessive EBS due to homozygous biallelic KRT5 mutations has not been reported previously; it has been hypothesized that it would result in embryonic lethality. We sought the genetic causes of EBS in a cohort of EB patients by performing whole exome sequencing (WES) and using a disease-targeted next-generation sequencing (NGS) panel of 21 genes. The pathogenicity and consequences of the mutations were determined by expression profiling and at tissue and ultrastructural levels. Two pathogenic, homozygous missense variants of KRT5 in two patients with generalized EBS and a homozygous null mutation in a patient who died as a neonate from complications of EB were found. The two missense mutations disrupted keratin 5 expression on immunofluorescence microscopy, and the human “knock-out” of KRT5 showed no RNA and protein expression. Collectively, these findings identify biallelic KRT5 mutations with a phenotypic spectrum varying from mild, localized and generalized to lethal, expanding the genotypic profile of autosomal recessive EBS.

An algorithmic approach for the management of hand deformities in dystrophic epidermolysis bullosa

Treatment of hand deformities in epidermolysis bullosa patients represents a challenging field in hand surgery practice, thus a systematic approach by a team is mandatory for a successful result. A simple and practical algorithm for the surgical treatment of hand deformities in EB was employed by the authors where the deformities of each digit in EB patients was categorized according to pseudosyndactyly and interphalangeal joint contracture severity for guidance during the surgical treatment. The current study retrospectively reviewed the medical records and photographic data of 13 EB patients followed in our department, for whom a systematic approach to the management and treatment was used. Mild cases were treated by surgical release and secondary healing with non-adhesive dressing while moderate cases were treated with autologous dermal grafts harvested with a special technique that were fixed on denuded areas on the proximal interphalageal joints after release. The remaining areas were treated similarly to the mild group. Additional K-wires were applied for two weeks in severe cases. A total of 21 procedures were performed on 13 EB patients with hand deformities according to the proposed treatment strategy. Functional recovery was satisfactory for each patient and the outcomes were dependent upon the severity of deformity. A multidisciplinary and conscious approach followed by an algorithmic surgical treatment protocol described in the study has been beneficial in providing consistent and successful long-term results for these patients.

Altered balance of epidermis-related chemokines in epidermolysis bullosa

BackgroundEpidermolysis bullosa (EB) is a congenital, refractory skin disease and there are no fundamental treatments. Recently, allogenic cell therapies are beginning to be applied as potential treatments, that are based on the concept that the allogenic cells can migrate into the skin and reconstitute the skin components. Although the mechanisms of cell migration into skin are not fully understood, chemokines are regarded as key factors in recruiting bone marrow-derived cells. ObjectivesOur study aims to elucidate the expression of chemokines in the EB patients. MethodsWe determined the expression of wound-healing related chemokines in the sera, keratinocytes, and skin tissues of EB patients and compared them to those of healthy volunteers by enzyme-linked immunosorbent assays, quantitative reverse transcription PCR, and immunofluorescence staining. ResultsThe serum levels of CXCL12 and HMGB1 were found to be significantly elevated in the EB patients. Conversely, the serum levels of CCL21 were found to be lower in the EB patients than in healthy controls. In addition, the serum levels of CXCL12 tended to increase and the serum levels of CCL27 tended to decrease with an increase in the affected body surface areas. To detect the origin of the circulating chemokines, we performed immunofluorescence staining. CCL21, CCL27, HMGB1 and CXCL12 were stained more broadly in the EB patient tissues than those in the control tissues. ConclusionsThese results suggest that fluctuations in chemokine levels may contribute in a coordinated way to the wound-healing process and lend clues toward efficient cell therapies for EB.

Reduction of Interhemispheric Functional Brain Connectivity in Early Blindness: A Resting-State fMRI Study.

Objective The purpose of this study was to investigate the resting-state interhemispheric functional connectivity in early blindness by using voxel-mirrored homotopic connectivity (VMHC). Materials and Methods Sixteen early blind patients (EB group) and sixteen age- and gender-matched sighted control volunteers (SC group) were recruited in this study. We used VMHC to identify brain areas with significant differences in functional connectivity between different groups and used voxel-based morphometry (VBM) to calculate the individual gray matter volume (GMV). Results VMHC analysis showed a significantly lower connectivity in primary visual cortex, visual association cortex, and somatosensory association cortex in EB group compared to sighted controls. Additionally, VBM analysis revealed that GMV was reduced in the left lateral calcarine cortices in EB group compared to sighted controls, while it was increased in the left lateral middle occipital gyri. Statistical analysis showed the duration of blindness negatively correlated with VMHC in the bilateral middle frontal gyri, middle temporal gyri, and inferior temporal gyri. Conclusions Our findings help elucidate the pathophysiological mechanisms of EB. The interhemispheric functional connectivity was impaired in EB patients. Additionally, the middle frontal gyri, middle temporal gyri, and inferior temporal gyri may be potential target regions for rehabilitation.

The Nursing Care And Education Plan For A Child With Epidermolysis Bullosa (A Case Report)

EB is a chronic disease, some types of which may have morbidity and mortality. That is why the patients must receive multidisciplinary care in case any complications arise. Families must be informed about the disease, about home care and receive genetic counselling. The importance of genetic counselling cannot be stressed enough, since both M.C. and his younger brother were diagnosed with EB. If the family had received genetic counselling, this tragic situation could have been prevented. Home care education for the families of EB patients is also of great importance. Relatives of the patient must also be educated about wound care, infection control, patient nutrition and physical treatment. They must also be educated about how to use the medications and about bandaging, dressing, Vaseline bandages, antiseptics, bathing procedures, and the use of antibiotic cream ointment. It was obvious, therefore, that the nursing care given at home enhanced both the patient’s and the family’s quality of life.

Risk factors for developing pressure ulcers according to the braden scale: evidence for the elderly/Fatores de risco para desenvolver úlceras por pressão segundo a escala de Braden: o idoso em evidência/Los factores de riesgo..

Objective: To identify risk factors for the formation of UP and analyze the main characteristics of patients suffering from such injuries Internal Medicine (CM) and Intensive Care Unit (ICU). Method: The sample consisted of patients older than 18 years admitted to the CM and the ICU of a hospital Pernambuco interior. They were evaluated by EB patients without PU; in patients with UP installed was applied semi-structured questionnaire containing questions about the risk factors and complications related to UP; The records were analyzed to complement the information. Results: We submitted to EB 573 patients, most presented low risk (51.5%). Among patients at high risk, most belonged to the older age than 60 years (44.0%), which are also prevalent among patients with UP already installed (63.3%). The ICU patients had a higher risk compared to the CM. Of the 30 patients with PU installed, UP 7% acquired in extra-hospital and 93% in-hospital, among the underlying diseases of the vascular origin had a higher incidence. The sacral region was the most affected (53%). Of the 46 injuries installed 36% were stage II. Descriptors: Pressure Úlcers. Risk Factors. Health of the Elderly.

Refractive and Ocular Motility Findings in Children with Epidermolysis Bullosa

Background and PurposeEpidermolysis bullosa (EB) is a genetic disorder resulting in blistering of the skin and mucous membranes. While ocular surface complications in EB patients are well documented, there are no reports* on the incidence of refractive errors and orthoptic problems in these patients.Patients and MethodsFifty-five consecutive EB patients underwent examination including visual acuity, cover test, ocular motility and assessment of binocular single vision, cycloplegic refraction, and fundus examination.ResultsTwenty-one of the 55 patients (38%) had reduced visual acuity (0.3 logMAR or less) in at least one eye, and 13/55 (24%) had bilaterally reduced visual acuity.Twenty-nine percent of patients had refractive errors; 20% hypermetropic, 5% myopic, 16% astigmatism, and 11% anisometropic. Fifteen percent of patients had a constant or intermittent tropia; 9% exotropia and 4% esotropia. Thirteen percent of patients had a significant phoria (>10Δ); all were exophoric. Sixteen percent had convergence insufficiency. This cohort of EB patients demonstrated a high prevalence of reduced visual acuity, strabismus and refractive errors compared with normal pediatric data from the literature.ConclusionsA large proportion of patients with EB across the subgroups have clinically significant refractive errors and strabismus. In view of the improved survival of EB patients, visual morbidity is of increasing importance. This study highlights the need for careful orthoptic and ophthalmic surveillance of children with EB.