Anesthetic implications in epidermolysis bullosa dystrophica.

Epidermolysis bullosa is a genetic mechanobullous disease of the stratified squamous keratinizing epithelium that affects the skin and mucous membranes. Its primary feature is the formation of blisters after minor shearing trauma to the skin or mucous membranes that can result in debilitating, even life-threatening scarring. The disease presents special problems for the anesthesia provider because the equipment used to deliver anesthesia and monitor vital signs may cause serious postoperative complications. The challenge is to maintain patency of the airway and use monitoring technology without damaging epithelial surfaces, which could result in permanent scarring. Successful anesthetic management of a patient with epidermolysis bullosa is possible if precautions with anesthetic instrumentation are observed.     

Urinary acid glycosaminoglycan in epidermolysis bullosa dystrophica (recessive type)

A biochemical study was carried out on the urine of an 18-year-old woman with epidermolysis bullosa dystrophica recessive type E.b.d.r.). The urinary acid glycosaminoglycans were separated and subjected to quantitative and qualitative analyses by gel filtration and column chromatography. A hyaluronic acid and the 0.5 M NaCl elution fraction were increased characteristically in the acid glycosaminoglycan.     

Mitral valve prolapse in a patient with epidermolysis bullosa

Mitral valve prolapse has been assoicated with several connective tissue and developmental disorders, including Ehlers-Danlos syndrome, Marfan's disease; pseudo-xanthoma elasticum, myotonic dystrophy. cardiomyopathy, Ebstein's anomaly of the tricuspic valve and atrial septal defect of the ostium secundum variety. Presented here is a case of mitral valve prolapse in a patient with epidermolysis bullosa. The author is unaware of any previously reported cases of this association.     

Anesthetic management of a difficult airway in a patient with epidermolysis bullosa: a case report

Epidermolysis bullosa is an inherited skin disease that leads to an array of medical problems. Patients are susceptible to blistering and scar formation following even minor trauma. These patients may present with scarring, limiting the range of motion of their temporal mandibular joint. This case report describes a 15-year-old patient with epidermolysis bullosa presenting for contracture release, with a difficult airway.     

IgA nephropathy in a patient with dominant dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa (DEB) is a rare and severe hereditary dermatosis. On the other hand, IgA nephropathy is the most common form of glomerulonephritis in childhood and adults, and clinically characterized by microhematuria and proteinuria and histologically by deposition of immunoglobulin A in mesangial lesions. Several renal complications of recessive DEB including IgA nephropathy and amyloidosis have been reported. However, there have been no reports on dominant DEB associated with IgA nephropathy. We report here for the first time a 17-year-old girl with dominant DEB associated with IgA nephropathy. The patient has suffered from episodes of urinary, upper airway, and skin infections. At 17 years of age, proteinuria and hematuria were detected, with a high value of serum IgA. Renal biopsy was performed, and immunofluorescence microscopic examination revealed segmental deposits of IgA in mesangial lesions, with many glomeruli exhibiting diffuse segmental mesangial-proliferative glomerulonephritis. We diagnosed dominant DEB associated with IgA nephropathy on the basis of proteinuria, hematuria, and deposits of IgA in mesangial lesions on immunofluorescence microscopic examination, and diffuse segmental mesangial-proliferative glomerulonephritis. These findings suggest that repeated skin infections might have contributed to the pathogenesis of IgA nephropathy in this patient.     

Using honey to heal a chronic wound in a patient with epidermolysis bullosa

This case study details the healing of a chronic wound (20 years' duration) in a patient with dystrophic epidermolysis bullosa (EB). Many different dressings and creams had been used, and on occasions the wound began to heal but never progressed to closure. A honey impregnated dressing was used and the wound healed in 15 weeks. A brief overview of the dystrophic form of EB is given and some evidence for the efficacy of honey is presented.     

早产儿合并大疱性表皮松解症一例的护理体会

大疱性表皮松解症是新生儿期一种少见的常染色体遗传性疾病。本病呈常染色体显性或隐性遗传，其临床特征是皮肤受压或摩擦后即可引起大疱，皮损易发生在受外力影响的部位。该病多发生在关节伸侧，手指、足趾、踝部、腕部、耳朵等易受外力碰撞摩擦处，皮损散后可不留瘢痕而痊愈，或有栗粒疹形成，或产生不能痊愈的肉芽组织。     

新生儿大疱表皮松解症的护理

报告1例先天性大疱表皮松解症新生儿的护理。在做好全身支持的基础上,造口治疗师积极处理水疱与创面,避免因张力引起水疱范围拓展,采用温生理盐水局部脉冲冲洗技术进行清创,减轻换药疼痛,然后以湿性愈合敷料治疗创面。经过12d精心治疗与护理,患儿好转出院。     

Misdiagnosed dystrophic epidermolysis bullosa pruriginosa: A case report

BACKGROUNDDystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of DEB, characterized by recurrent pruritus of the extremities, pruritus papules, nodules, and mossy-like plaques. To date, fewer than 100 cases have been reported. We report a misdiagnosed 30-year-old man with sporadic late-onset DEB-Pr who responded well to tacrolimus treatment, thereby serving as a guide to correct diagnosis and treatment.CASE SUMMARYA 30-year-old man presented with recurrent itching plaques of 1-year duration in the left tibia that aggravated and involved both legs and the back. Examination revealed multiple symmetrical, purple, and hyperpigmented papules and nodules with surface exfoliation involving the tibia and dorsum of the neck with negative Nissl''s sign, no abnormalities in the skin, mucosa, hair, or fingernail, and no local lymph node enlargement. Blisters were never reported prior to presentation. Serum immunoglobulin E level was 636 IU/mL. Clinical manifestations suggested DEB-Pr. Histological examination showed subepidermal fissure, scar tissue, and milia. Direct immunofluorescence showed no obvious abnormalities. However, we were unable to perform electron microscopy or genetic research following his choice. We treated him with topical tacrolimus. After 2 wk, the itching alleviated, and the skin lesions began to subside. No adverse reactions were observed during treatment. CONCLUSIONTopical tacrolimus is a safe treatment option for patients with DEB-Pr and can achieve continuous relief of severe itching.     

大疱表皮松解症患儿并指畸形分指手功能重建术的护理

报告1例大疱表皮松解症患儿并指畸形分指手功能重建术的护理体会。护理要点包括：改良创面换药方法,避免各指间皮肤粘连;改进静脉输液护理;预防皮肤摩擦,减轻瘙痒;实施个性化的手功能康复锻炼计划;提供符合患儿病情特点的疼痛管理及出院指导。经过分指手功能重建术治疗和精心护理,患儿手部创面愈合,皮肤无瘢痕形成,各手指屈曲、外展、内收、捏握功能满意,术后33 d出院。     

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.     

Managing pain in children with epidermolysis bullosa

Epidermolysis bullosa is a rare genetic skin fragility disorder, with several types of varying severity. While research is progressing towards effective treatments, management remains symptomatic. One of the most distressing symptoms is pain, which may be multifactorial in origin. This article focuses on managing procedural pain during dressing changes and includes a case study.     

Gene therapy of epidermolysis bullosa

Easy access to the organ and identification of underlying mutations in epidermolysis bullosa (EB) facilitated the first cutaneous gene therapy experiments in vitro in the mid-1990s. The leading technology was transduction of the respective cDNA carried by a retroviral vector. Using this approach, the genotypic and phenotypic hallmark features of the recessive forms of junctional EB, which are caused by loss of function of the structural proteins laminin-5 or bullous pemphigoid antigen 2/type XVII collagen of the dermo-epidermal basement membrane zone, have been corrected in vitro and in vivo using xenograft mouse models. Recently, this approach has also been shown to be feasible for the large COL7A1 gene (mutated in dystrophic EB), applying PhiC31 integrase or lentiviral vectors. Neither of these approaches has made it into a successful Phase I study on EB patients. Therefore, alternative approaches to gene correction, including modulation of splicing, are being investigated for gene therapy in EB.