SEARCH · PubMed Health

Results for “EPIDERMOLYSIS BULLOSA”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources

PubMed1985

Head and neck complications of epidermolysis bullosa.

Epidermolysis bullosa is a rare congenital skin disease which is characterized by easy formation of traumatic skin bullae. The disease is usually detected in early infancy due to the recurrent bullae. Prognosis is dependent on the histological variant which is present. A case of autosomal recessive epidermolysis bullosa is presented, which demonstrates many of the head and neck complications of the disease. Traditional skin care modalities as well as multiple surgical procedures such as skin grafts and the use of amniotic membrane were used without success. Limited natural healing, which was possibly promoted by oral phenytoin, has occurred.

Child, Preschool↗

PubMed1995

Twelve hour anaesthesia in a patient with epidermolysis bullosa.

Epidermolysis bullosa (EB), an inherited disorder presents clinically with recurrent cutaneous blister formation with possible involvement of mucous membranes and other organs. The sequelae of this disease pose multiple challenges to the anaesthetist and operating room team. Recent literature describes several anaesthetic techniques for the short surgical procedures this patient population may undergo. We describe the anaesthetic technique employed in a 28-yr-old women with recessive dystrophic epidermolysis bullosa who underwent 12 hr reconstructive surgery followed by a review of the literature that includes a recent description of the possible association of EB with at least two distinct neuromuscular diseases. A detailed description of airway and skin management is described in addition to preoperative concerns. We conclude that a prolonged operative procedure can be undertaken successfully in this population with minimal sequelae involving skin integrity and airway management.

Adult↗

PubMed1989

Laryngotracheal involvement in epidermolysis bullosa.

Epidermolysis bullosa (EB) is a rare hereditary skin disease of infancy that can involve the mucous membranes of the oral cavity. Laryngotracheal involvement is rare. The disease is characterized by bullae formation in response to minor trauma. There are at least 18 described types of EB, however, there are 3 basic categories. These are simplex (with disruption above the basement membrane), dystrophic (in which disruption is below the basement membrane), and junctional (in which the split is within the lamina lucida). The prognosis of the different types ranges from early death usually secondary to overwhelming sepsis, to long term survivals with lack of growth retardation or significant dystrophic scarring. Presently, survival appears to be the only reliable criteria for distinguishing the benign and lethal forms of EB. Airway obstruction secondary to laryngotracheal involvement should be considered in any child with epidermolysis bullosa presented with symptoms of respiratory distress. Because there are few predictive prognostic indicators in the neonatal period, tracheotomy should be considered early in an effort to prevent further laryngeal injury from intubation, in those patients that will survive.

Epidermolysis Bullosa↗

PubMed1998

Do mutations in the basement membrane zone affect the human periodontium? Review with special reference to epidermolysis bullosa.

Epidermolysis bullosa (EB) is a group of diseases characterized by the development of blisters or erosions following minor trauma to the skin. Oral findings that have been associated with EB include keratin-filled cysts; blistering of the mucosa, tongue, and lips; perioral carcinomas; ankyloglossia; lingual papilla atrophy; caries; enamel hypoplasia; rapid attrition of the teeth; and obliteration of the oral vestibule. Defects at the basal cell/basement membrane/connective tissue levels correspond to the mutations in basal cell keratins, hemidesmosome components, and type VII collagen, respectively. In a number of types of EB, structural defects in the skin have been shown and genetic mutations determined. Although there are no publications documenting the prevalence of periodontal diseases in patients with epidermolysis bullosa, it is likely that some molecular defects in the basement membrane zone could increase the susceptibility of a patient to periodontal disease, as this has been noted in the related disorder of Weary-Kindler syndrome. Early-onset periodontal disease can be expected to develop in some types of EB patients, even in the absence of common periodontal pathogens, because of a reduced resistance at the junctional epithelial complex.

Basement Membrane↗

PubMed1975

[Pathomorphogenesis of blistering in epidermolysis bullosa acquisita and epidermolysis bullosa dystrophica (author's transl)].

Electronmicroscopical examination on skin lesions of epidermolysis bullosa dystrophica recessiva (E.b.d.r.) and epidermolysis bullosa acquisita (E.b.a.) associated with Crohn's disease have demonstrated that blistering occurs between epidermis and dermis beneath the basal lamina. The structural defect concerns the anchoring fibrils only which are missing in the junctional zone of the involved skin. All other junctional structures are intact. Beneath the basal lamina a band-like zone of a moderate electrondense, amorphous material is seen in the skin-lesions of epidermolysis bullosa acquisita, less marked in epidermolysis bullosa dystrophica. Direct immunofluorescent investigation of involved skin of E.b.a. shows a pemphigoid-like fluorescent pattern at the basal lamina with antihuman IgG-, -IgM-, beta1c/beta1a and antihuman C1q-component. In epidermolysis bullosa dystrophica, however, a fluorescent pattern at the basal lamina was found only with anti-human IgG and Anti-C3. The pathogenetic importance of the immunoglobuline-deposits at the basal lamina is discussed in regard of the loss of anchoring fibrils and the subsequent vesication in these types of epidermolytic diseases.

Animals↗

PubMed2026

From the Microscope to the Genome: A New Era in the Molecular Genetics of Epidermolysis Bullosa.

Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterised by skin fragility, caused by pathogenic variants in genes encoding structural components of the dermo-epidermal junction. With the advent of next-generation sequencing (NGS), the diagnostic paradigm has shifted from a morphological to a genotype-oriented approach. This review summarises the genetic architecture of EB, the types of mutations and genotype-phenotype relationships, the challenges in interpreting variants of unknown significance (VUS), and therapeutic strategies targeting specific mutational mechanisms, including read-through approaches, exon skipping and genome editing. The role of modifier genes and epigenetic factors in clinical variability is also discussed. The focus is on the translational potential of genomics for personalized therapy in EB. Overall, this review synthesizes the molecular basis of all four major EB types across 16+ classical genes, highlights the paradigm shift where NGS achieves a diagnostic yield exceeding 90%, and critically assesses recent therapeutic milestones-ranging from the first FDA-approved topical gene therapy to precision RNA and genome-editing modalities.

Humans↗

PubMed1993

Epidermolysis bullosa.

Epidermolysis bullosa is a group of genetically determined diseases characterized by abnormal fragility of the skin and mucosa. In this chapter, we review current thinking about classification, pathogenesis, and molecular genetics, and we discuss management guidelines.

Epidermolysis Bullosa↗

PubMed1977

Oesophageal involvement in epidermolysis bullosa.

Epidermolysis bullosa dystrophica causing oesophageal stricture in two males of a family of 4 siblings--2 females and 2 males, and whose parents are not related, is reported. The stricture was treated with repeated dilatations and oral prednisolone on and off with complete success. A brief comment is also made with regards to the pathology and management of this condition.

Child, Preschool↗

PubMed1988

Obstetrical concerns of epidermolysis bullosa.

Epidermolysis bullosa is a group of autosomally inherited diseases involving skin breakdown of varying degrees and severity. Prenatal diagnosis and evaluation of these diseases is reviewed although pregnancy is not generally adversely affected by these diseases. Labor and delivery practices must be altered for the management of these patients. The obstetrical team must pay careful attention to adhesive dressings and anesthetic devices. Minor trauma may lead to severe lesions.

Adult↗

PubMed1984

[New aspects of the treatment of dermatogenous contractures of the hand in epidermolysis bullosa].

Epidermolysis bullosa dystrophica is a rare hereditary disease of skin. There are always flexion contractures and pseudosyndactylies of all fingers and adduction contractures of the thumb. Aims of surgical management are reconstruction and maintaining of hand function. Technical details of 18 operations in six children are described. Ultramicroscopical criteria help to choose patients for therapy with phenytoin. It is as yet too early to assess the results of the latter treatment.

Adolescent↗

PubMed2005

Oral-clinical findings and management of epidermolysis bullosa.

Epidermolysis bullosa (EB) is a diverse group of disorders that have as a common feature blister formation with tissue occuring at variable depths in the skin and/or mucosa. This article reports two cases of EB and review oral-clinical findings of the EB types and approaches for managing the oral-clinical manifestations. While systemic treatment remains primarily palliative, it is possible to prevent destruction and subsequent loss of the dentition through appropriate interventions and dental therapy.

Blister↗

PubMed1998

[Anesthesia techniques in epidermolysis bullosa].

Epidermolysis bullosa encompasses a group of rare clinical profiles marked by the formation of bullae on the skin and mucosa as the result of slight mechanical trauma. The anesthesiologist must take certain safety measures to monitor the airway and must expect difficult venous access in patients with this disease. We report our experience in providing anesthesia by various techniques for plastic and maxillofacial surgery. Most anesthetic techniques can be considered safe if they are performed with care and attention to detail.

Adult↗

PubMedDate not supplied

Nutritional support for children with epidermolysis bullosa.

Epidermolysis bullosa (EB) comprises a rare group of genetically determined skin blistering disorders characterized by extreme fragility of the skin and mucous membranes, with recurrent blister formation. The cornerstones of management are control of infection, wound management, pain relief, promotion of optimal nutritional status and mobility, surgical intervention and provision of the best possible quality of life. There is currently no cure for EB and, throughout life, those with the more severe types are at risk of significant nutritional compromise which impacts negatively on health and overall quality of life. Nutritional support is an important facet of holistic care and the dietetic challenges can be considerable. This paper describes some of the issues involved in optimizing the nutritional status of children with this disorder.

Child↗

PubMed1998

Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.

Epidermolysis bullosa (EB) in neonates is often difficult to characterize, both in terms of making a precise diagnosis and in being able to comment accurately on the prognosis for the affected child. We present a case of a neonate with inherited mucocutaneous fragility and failure to thrive and detail our laboratory approach for classifying the subtype of EB in this child. Mutational analysis revealed a homozygous non-sense mutation in the gene encoding the 180 kDa bullous pemphigoid antigen, also known as type XVII collagen, predicting a non-lethal form of junctional EB. Identification of the underlying molecular pathology in this case was of use in improving diagnosis, classification, management and counselling.

Autoantigens↗

PubMed1994

Laryngeal involvement in epidermolysis bullosa.

Epidermolysis bullosa (EB) represents a group of rare hereditary mechanobullous disorders marked by blister formation following relatively minor trauma. There are three categories depending on the site of disruption within the skin: simplex (above the basement membrane), dystrophic (below the basement membrane), and junctional (at the lamina lucida). Laryngeal involvement is rare, but has been reported primarily in association with junctional EB. Presented is our experience with 5 children with EB who demonstrated laryngeal involvement. Three children required tracheostomies acutely and 1 died of airway obstruction. One patient, with the Dowling-Meara type of EB simplex, was treated conservatively with good results. Tracheostomy should be an early consideration in the management of these patients to protect the airway in the acute setting and to prevent any further laryngeal injury associated with endotracheal intubation. The rate of complications of tracheostomy appears to be low; however, the prognosis for decannulation is poor.

Child, Preschool↗

PubMed1983

Ultrastructural features of epidermolysis bullosa.

Epidermolysis bullosa (EB), a heterogeneous group of hereditary diseases, varies in mode of inheritance, extent, severity, and presence or absence of scarring and dystrophy. Fourteen cases (13 in infants and 1 in a young adult) were studied. Subtyping by ultrastructural findings in normal and blistered skin biopsies was as follows: EB simplex (2), EB letalis (3), EBD dominant (2), and EBD recessive (7). One case diagnosed as recessive dystrophic by electron microscopy (EM) followed a benign course with little scaring and was reclassified clinically and after reviewing the EM as dominant dystrophic. Defining the level of bulla formation by EM allowed accurate diagnosis of subtypes. In 6 patients with EBD recessive, normal and bullous skin showed collagenolysis and no anchoring fibrils. In patients with EBD dominant, rudimentary fibrils were noted in normal skin. Whether absence of anchoring fibrils is primary or secondary in these two types and the role of collagenolysis remain unresolved.

Adult↗

PubMed2000

Pharyngogastric colonic interposition for total oesophageal occlusion in epidermolysis bullosa.

Epidermolysis bullosa comprises a group of rare heritable disorders, characterized by blistering of skin and other epithelial lined structures following minor trauma. In the oesophagus, trauma from food boluses leads to bullae, ulceration and scarring, with formation of strictures. Oesophageal strictures are usually managed with balloon dilatation. We describe a case of a 19-year-old woman whose oesophageal stricture did not respond to balloon dilatation. She underwent a substernal colon interposition between the pharynx and stomach. The surgery included cervical, thoracic and abdominal approaches, with involvement of three specialist surgeons. Three months after surgery, the patient reported to be swallowing with little difficulty. Because of the high risk of morbidity and mortality associated with this surgery, we recommended that the patient should be managed in a specialist centre, with availability of intensive care facilities and the possibility of providing a multidisciplinary approach during surgery.

Adult↗

PubMed1992

Expression of mutant p53 gene in squamous carcinoma arising in patients with recessive dystrophic epidermolysis bullosa.

Epidermolysis bullosa, a rare genodermatosis, is characterized by increased skin fragility manifest as blistering and sometimes accompanied by scarring. The latter is particularly severe in the recessive dystrophic variant and may be complicated by the development of squamous carcinoma in up to 30% of patients. We have studied 23 such tumours in six patients with this variant, with an anti-serum to p53 protein. Twenty-six per cent of the squamous carcinomas labelled positively for mutant-type p53 protein. This low figure, however, reflects the large number of well-differentiated tumours in this series, where 14 out of 15 were negative. In the moderate to poorly differentiated examples the positivity rate was 63%. Of the three patients in the latter category, one has died from disseminated tumour and another has widespread metastases. The findings support the hypothesis that mutant p53 protein expression correlates with poorer tumour differentiation. They also suggest a possible correlation between p53 protein expression and tumour behaviour.

Carcinoma, Squamous Cell↗