Inherited Forms Of Epidermolysis Bullosa Research Articles

Interventions for inherited forms of epidermolysis bullosa

Interventions for inherited forms of epidermolysis bullosa

INHERITED EPIDERMOLYSIS BULLOSA IN NEWBORN (CASE STUDY)

Inherited epidermolysis bullosa (IEB) is a group of genetically and clinically heterogeneous diseases characterized by the formation on the skin and mucous membranes blisters and erosion due to injury. Different forms of IEB can be accompanied by various extracutaneous complications, such as blisters and erosion on the cornea and mucous membranes, stenoses and strictures of the respiratory system, gastrointestinal tract, urinary system, muscle dystrophy, and malignant tumors. Therefore diagnosis and prescribing appropriate treatment and follow-up care is an important task for neonatologists and pediatric dermatologists. Because the manifestations of IEB are numerous, a specialized center is required for optimal care, where multidisciplinary care will be provided (neonatologists, pediatric surgeons, pediatric dermatologists, etc.). The purpose of this case report is to pay attention of specialists to a disease that is rare, to present clinical case of IEB in newborn who was admitted to the intensive care unit of newborns of Vinnitsa Regional Children’s Clinical Hospital.

Updated systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa

Clinical and Experimental DermatologyVolume 38, Issue 1 p. 92-94 Viewpoints in dermatology •Correspondence Updated systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa I. Garcia-Doval, I. Garcia-Doval Department of Dermatology, Complexo Hospitalario de Pontevedra (CHOP), SERGAS, Pontevedra, SpainSearch for more papers by this authorP. Davila-Seijo, P. Davila-Seijo Department of Dermatology, Complexo Hospitalario de Pontevedra (CHOP), SERGAS, Pontevedra, SpainSearch for more papers by this authorS. M. Langan, S. M. Langan Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, Keppel Street, London, UK St John’s Institute of Dermatology, Guy’s and St Thomas’ Hospital NHS Foundation Trust, London, UK E-mail: ignacio.garcia.doval@sergas.esSearch for more papers by this author I. Garcia-Doval, I. Garcia-Doval Department of Dermatology, Complexo Hospitalario de Pontevedra (CHOP), SERGAS, Pontevedra, SpainSearch for more papers by this authorP. Davila-Seijo, P. Davila-Seijo Department of Dermatology, Complexo Hospitalario de Pontevedra (CHOP), SERGAS, Pontevedra, SpainSearch for more papers by this authorS. M. Langan, S. M. Langan Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, Keppel Street, London, UK St John’s Institute of Dermatology, Guy’s and St Thomas’ Hospital NHS Foundation Trust, London, UK E-mail: ignacio.garcia.doval@sergas.esSearch for more papers by this author First published: 25 June 2012 https://doi.org/10.1111/j.1365-2230.2012.04419.xCitations: 5 Conflict of interest: none declared. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume38, Issue1January 2013Pages 92-94 RelatedInformation

A systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa

Many interventions have been described for inherited epidermolysis bullosa (EB), but it is unclear which are beneficial. A systematic review of randomized controlled trials (RCTs) was performed to inform practice and highlight research gaps. The Cochrane Central Register of Controlled Trials, MEDLINE, EMBASE and the Cochrane Skin Group specialist library, from inception until 1 April 2007, were searched. Primary outcomes were healing of lesions or prevention of new lesions. Trials were assessed for quality of reporting and data were extracted. Five randomized double-blind placebo-controlled crossover studies were identified (n = 102). Two studies assessed oral tetracyclines in EB simplex (EBS). In one study (n = 12), 4/6 patients improved and 2/6 deteriorated on a dose of 1500 mg of tetracycline daily; only two patients completed the study. In the second study (n = 21), 6/18 and 7/18 improved on oxytetracycline 1 g and placebo, respectively. Two RCTs assessed topical interventions for EBS: aluminium chloride hexahydrate solution 20% (n = 23) and bufexamac cream 5% (n = 8). Neither showed a benefit over placebo. One RCT of 36 patients with recessive dystrophic EB compared phenytoin with placebo and failed to show any difference in mean lesion counts (difference = 0, 95% CI -11 to 4). There is no reliable trial evidence for interventions in inherited EB. In future, it may be that gene treatment becomes the best treatment approach for these diseases.

The prevalence of epidermolysis bullosa in Scotland

The prevalence of epidermolysis bullosa (EB) in Britain and most other countries is unknown. Patients suffering from the inherited forms of EB and living in Scotland have been traced. Two hundred and fifty-nine affected people from 76 families have been identified, of whom 211 were clinically assessed. One-third of these Scottish EB sufferers had never been seen by a dermatologist. In Lothian, where there appears to be a relatively high prevalence of EB, 75% of patients were unknown to their general practitioners. The point prevalence of all forms of EB at the outset of the study was 49.0 per million, comprising EB simplex 28.6 per million and dystrophic EB 20.4 per million. Extrapolation of accurate data available for the Lothians suggests that the point prevalence of all forms of EB in Scotland is in excess of these figures.

Peripheral blood mononuclear cell subsets in patients with severe inherited forms of epidermolysis bullosa

Peripheral blood mononuclear cell subsets in patients with severe inherited forms of epidermolysis bullosa

Oral soft tissues in hereditary epidermolysis bullosa

Epidermolysis bullosa (EB) is associated with diverse oral manifestations, which can potentially involve both hard and soft tissues, depending on the specific EB subtype. This study determined the frequency and extent of oral soft tissue involvement in the inherited forms of EB. Examination of 216 affected persons revealed significant differences in the oral soft tissue involvement among the various types of EB. The frequency of oral involvement was greater in the dominant dystrophic (81.1%) and simplex (generalized, 58.6%; localized, 34.7%) types than previously reported. The marked frequency of oral blistering was similar in both major subtypes of junctional (Herlitz, 83.3%; non-Herlitz, 91.6%) and recessive dystrophic EB (generalized, 100%; localized, 92.3%). Obliteration of the oral vestibule, ankyloglossia, and microstomia were consistent findings in generalized recessive dystrophic EB. Oral milia were present in all major EB categories, most prevalently in the dystrophic forms, but were not seen in all the distinct EB subtypes. These findings indicate that although there are no pathognomonic intraoral soft tissue manifestations in the various forms of inherited EB, there are predictable patterns of involvement associated with specific subtypes of this disease. Understanding the oral involvement associated with EB may aid clinicians in the development of more advanced therapeutic approaches that are compatible with and directed at the unique characteristics of each EB subtype.

Natural Killer Cell Activity Is Reduced in Patients With Severe Forms of Inherited Epidermolysis Bullosa

Natural killer (NK) cell activity was evaluated in 34 patients with inherited forms of epidermolysis bullosa (EB). While the NK activity of EB simplex patients did not differ from that of control subjects, persons with more severe forms of EB demonstrated significant reductions in NK activity. The degree of this reduction was directly related to the severity of the skin involvement by EB with recessive dystrophic EB patients having the lowest NK activity. The absolute number of cells bearing NK surface markers in the peripheral blood of patients with recessive dystrophic EB did not differ from that of normal control subjects. This reduced NK activity may be at least partially responsible for the occurrence of septicemia in some persons with severe forms of EB and for the development of metastatic squamous cell carcinoma in patients with dystrophic EB.

Bullous Diseases of Childhood

Although the bullous diseases of childhood are rare, their differential diagnosis is vast. A logical approach to these disorders exists, and a careful history and examination of a patient will usually lead to a correct diagnosis. Confirmation of this diagnosis may depend on sophisticated laboratory procedures including immunofluorescence, electron microscopy, and tissue culture. This article reviews the clinical features, ultrastructural findings, and treatment of the various inherited forms of epidermolysis bullosa and the acquired bullous diseases, including chronic bullous disease of childhood, dermatitis herpetiformis, bullous pemphigoid, and pemphigus.