PubMed Health⌕ Search

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 19 recordsLinked to original sources
PubMed1992

Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa. Epidermolysis Bullosa Study Group.

BACKGROUND: Recessive dystrophic epidermolysis bullosa is an uncommon, severely disabling, heritable disorder characterized by abnormal fragility of the skin. Open trials have suggested that phenytoin is an effective treatment, and this therapy is now widely used. METHODS: To determine the efficacy of phenytoin in the treatment of recessive dystrophic epidermolysis bullosa, we performed a randomized, double-blind, placebo-controlled, crossover trial in 36 patients. Each treatment was given for five to seven months, separated by a two-month period. We measured the total number of blisters and erosions on the entire body, the size of three plaques containing blisters and erosions, and the number of blisters and erosions in the three plaques at the beginning and end of each treatment period in each patient. RESULTS: Twenty-two patients completed both courses of therapy, seven patients completed one course, and seven patients withdrew before completing a single course. There was no significant difference in disease activity between phenytoin treatment and placebo treatment, as measured by changes in the number of blisters and erosions on the entire body (7 percent decrease vs. 6 percent increase), in the area of three designated plaques (0.4 percent decrease vs. 0.2 percent increase), or in the number of blisters and erosions in the designated plaques (12 percent decrease vs. 31 percent increase). CONCLUSIONS: Phenytoin is not an effective treatment for patients with recessive dystrophic epidermolysis bullosa.

Adolescent↗
PubMed2001

[Large melanocytic nevi in generalized atrophic benign epidermolysis bullosa (epidermolysis bullosa nevi)].

Generalized atrophic benign epidermolysis bullosa (GABEB) is a nonlethal form of junctional epidermolysis bullosa. The expression of type XVII collagen (180 kDa bullous pemphigoid antigen) or of laminin 5 is markedly reduced in the skin. A 13-year-old patient with GABEB, developed several large, asymmetric, irregularly pigmented melanocytic nevi with poorly defined borders. They had appeared following blister formation since 8 years of age. Histological examination revealed an irregular proliferation of monomorphous melanocytes at the dermoepidermal junction. Small nests of melanocytes were focally present. This case further emphasizes the difficulty in differentiating nevi appearing in GABEB from malignant melanoma.

Adolescent↗
PubMed1985

Proteases are responsible for blister formation in recessive dystrophic epidermolysis bullosa and epidermolysis bullosa simplex.

The specific factors which induce blister formation in recessive dystrophic epidermolysis bullosa (RDEB) and epidermolysis bullosa simplex (EBS) were studied by culturing normal human skin with blister fluid from patients with RDEB and EBS. When skin from a healthy person was cultured with RDEB blister fluid, it developed a clean subepidermal blister with histology similar to that of a RDEB blister. The specific factor(s) which induced this subepidermal blister was inactivated by heat (60 degrees C, 30 min), trypsin digestion and by treating with EDTA, EGTA, alpha 2-macroglobulin, soybean trypsin inhibitor (SBTI) or N-ethylmaleimide (NEM), but was not affected by dialysis. These findings suggest that the active factor(s) in the blister fluid from patients with RDEB might include collagenase, neutral thiol protease and trypsin-like protease. By contrast, when normal skin was cultured with EBS blister fluid, this produced a clean intra-epidermal blister with histology similar to that of an EBS blister. The specific factor(s) inducing the intra-epidermal blister was inactivated by heat (60 degrees C, 30 min), trypsin digestion and by treating with NEM, but was not affected by dialysis, divalent cation chelators (EGTA, EDTA), alpha 2-macroglobulin, SBTI and pepstatin. These results suggest that the active factor(s) inducing the intra-epidermal blister in EBS might be a neutral SH-protease.

Adult↗
PubMed1999

[Syndromes 13. Epidermolysis bullosa].

Epidermolysis Bullosa is characterised by blister formation of skin and mucous membranes. Three major varieties of epidermolysis bullosa (EB) are reviewed including their dental and oral aspects: EB simplex, junctional EB and dystrophic EB. Marked oral involvement of the soft and hard tissues can produce potentially devastating alterations in anatomy and function. Oral debilitation is limited primarily to the recessive dystrophic EB type due to soft tissue scarring following blister formation. Microstomia, ankyloglossia and obliteration of the oral vestibule are typical features of dystrophic EB. In other cases enamel hypoplasia and cementum disorders can be present. Epidermolysis bullosa has considerable impact on oral health and dental care.

Blister↗
PubMed1986

The urological manifestations of epidermolysis bullosa.

Epidermolysis bullosa is a rare skin disorder that may at times involve the respiratory, gastrointestinal and genitourinary systems. We report 3 cases of epidermolysis bullosa involving the urinary tract. The radiographic evaluation of this entity and its relationship to other forms of obstructive uropathy are discussed along with a management plan for patients with genitourinary involvement owing to epidermolysis bullosa.

Epidermolysis Bullosa↗
PubMed2004

Major surgery and anesthetic technique in epidermolysis bullosa.

Epidermolysis bullosa is a hereditary rare condition characterized with local and generalized lesions and autosomal dominant trait with variable penetrance. It was decided to amputate the left leg under the knee of a female patient with epidermolysis bullosa with squamous cell carcinoma. The smallest trauma may cause formation of serious bullous in the skin in epidermolysis bullosa. Surgeons, dermatologists, and anesthesiologists must evaluate the cases. During preoperative, intraoperative, and postoperative periods, all interventions that may cause interruption in circulation of the tissues cause irritation, or delay healing of the wounds must be avoided.

Adult↗
PubMed1995

Proteoglycans in albo-papuloid lesions of the Pasini form of dominant dystrophic epidermolysis bullosa.

Epidermolysis bullosa is a group of inherited blistering diseases classified into three main sub-groups on the basis of the level of cleavage within the skin. In dominant dystrophic epidermolysis bullosa, characterized by cleavage below the basal lamina, two variants can be distinguished by the presence (Pasini form) or absence (Cockayne-Touraine form) of albo-papuloid lesions. The present study was undertaken to investigate the glycosaminoglycan chains of proteoglycans in the albo-papuloid lesions of a patient with the Pasini form, using histochemical and immunohistochemical methods. Histological examination revealed no dermo-epidermal separation. In the dermis, the papillary and subpapillary layers were slightly homogeneous, and exhibited a strong affinity towards alcian blue, which was abolished by treatment with chondroitinase ABC or in the presence of MgCl2 0.3M, but was resistant to digestion with streptomyces hyaluronidase. The papillary and subpapillary layers were intensely stained with a monoclonal antibody against small size proteoglycan with dermatan sulfate. These results suggest the presence of degraded dermatan sulfate proteoglycan in the papillary and subpapillary dermis of albo-papuloid lesions in the Pasini form of dystrophic epidermolysis bullosa.

Epidermolysis Bullosa Dystrophica↗
PubMed1991

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.

Blister↗
PubMedDate not supplied

Dental caries risk in hereditary epidermolysis bullosa.

Epidermolysis bullosa (EB) is a clinically diverse group of conditions characterized by skin fragility and, in certain types, marked dental involvement. The purpose of this study was to determine the prevalence of dental caries in EB and control populations. Healthy individuals and participants from the Southern Clinical Center of the National EB Registry were examined with artificial light and a #23 dental explorer. Caries levels were evaluated by chi-square analysis, regression analyses, and ANOVA (P < 0.05 being significant). The study included 252 individuals with EB, aged 2.3-71 years, and 57 similarly aged controls. The prevalence of dental caries, scored as DMFS (decayed, missing, filled surfaces), was significantly higher in the junctional (mean = 58.6) and recessive dystrophic (mean = 37.6) EB types than controls (mean = 23.2). The simplex (mean = 25.6) and dominant dystrophic (mean = 21.6) EB groups had DMFS levels similar to the control group. Individuals with recessive dystrophic EB had the most severe oral blistering and scarring and did not have generalized enamel hypoplasia. In contrast, junctional EB always was associated with generalized enamel hypoplasia yet the intraoral blistering rarely involved scarring. This study shows that dental caries is increased in dystrophic and junctional EB compared with unaffected individuals or other EB types. While rampant caries appears related to the soft tissue and enamel involvement in these two EB types, other as yet unclear cofactors also must be involved.

Adolescent↗
PubMed2004

Squamous cell carcinoma in epidermolysis bullosa.

Epidermolysis bullosa (EB) is a group of inherited blistering disorders that are divided into three categories based on the plane of cleavage of the blister, mode of inheritance, and the presence or absence of scars. Squamous cell carcinoma developing in epidermolysis bullosa is rare and presents a therapeutic dilemma. The authors report a case of congenital epidermolysis bullosa with locally advanced squamous cell carcinoma.

Journal Article↗
PubMed1996

Management of patients with epidermolysis bullosa.

Epidermolysis bullosa is a group of systemic disorders whose management requires familiarity with its many extracutaneous complications. These include gastrointestinal, ophthalmologic, laryngeal, dental, and hematologic problems. This article reviews wound care and management of systemic complications seen in patients with epidermolysis bullosa.

Epidermolysis Bullosa↗
PubMed2001

Colon interposition for esophageal stenosis in a patient with epidermolysis bullosa.

Epidermolysis bullosa (EB) is a disease with 3 forms, most hereditary, characterized by spontaneous blistering lesions. The autosomally inherited form, epidermolysis bullosa dystrophica recessive (EBDR), is responsible for esophageal lesions consisting of web or stenosis. The authors could find only 9 cases treated by various esophageal replacement procedures in the literature, and the experience with 1 case treated by colon interposition is presented. J Pediatr Surg 36:1861-1863.

Anastomosis, Surgical↗
PubMed1992

Management of urinary tract in children with epidermolysis bullosa.

Epidermolysis bullosa is a group of rare genetic disorders characterized by noninflammatory blistering lesions of the skin occurring after minor mechanical trauma. In association with junctional epidermolysis bullosa, a syndrome of pyloric atresia has occasionally been noted in the literature. Several infants who had this combined disorder have been reported to have severe genitourinary tract involvement. Most of these patients have died at an early age because of severe urinary tract involvement. We describe a rare survivor who was initially treated with urinary diversion. Subsequent attempts at undiversion of this patient were unsuccessful. He is presently stable following rediversion. The entities of e. bullosa and e. bullosa/pyloric atresia are reviewed with emphasis on urologic associations.

Child↗
PubMed1983

Care of the hand in recessive epidermolysis bullosa.

Epidermolysis bullosa refers to a group of disorders whose common feature is blistering of the skin. This paper deals specifically with the loss of motion and digital function resulting from the recessive dystrophic type of epidermolysis bullosa in five young patients aged 3 to 11 years. Indications for surgery and preoperative planning are discussed. Special management considerations included skin care, the need for dietary supplements, and a preference for ketamine anesthesia. Epidermal degloving, full release of contractures, the use of split-thickness skin grafts, and immobilization and suspension of the hand by means of a traction bow without the use of other dressings constituted the important operative points. Postoperative treatment emphasizes wound care, splinting, and gradual mobilization of the joints. Long-term use of a splint to provide gentle digital separation helped prevent early recurrence of webbing. All the patients obtained increased joint motion and enhanced hand function as a result of their treatment.

Child↗
PubMed1999

[Anesthesia in a patient with epidermolysis bullosa].

Epidermolysis bullosa hereditaria, a rare inherited disorder presents clinically with recurrent cutaneous blister formation with possible involvement of mucous membrane and organs following minimal trauma. The sequelae of this disease pose significant anesthetic problems to operating room staffs. We describe the anesthetic management of a 32-year old woman with epidermolysis bullosa hereditaria who underwent palmar skin graft using regional anesthesia, and discuss the problems associated with this disease.

Adult↗
PubMed1993

Gastrointestinal manifestations in the Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa.

Epidermolysis bullosa encompasses a group of rare disorders typified by blister formation following minor trauma to the skin. Gastrointestinal tract involvement may occur in the extremely rare recessive dystrophic variants. The gastrointestinal manifestations present in 25 patients with the Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa are reviewed. In the oesophagus both anatomical and motility abnormalities were observed. Features seen included a generally shortened oesophagus, strictures including those resembling webs, hiatus herniae, decreased peristalsis, oesophageal atony and pseudodiverticulum formation. These patients also had faecal impaction.

Adolescent↗