Case series

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Authors

Thorsten Vowinkel1, *, Mike Laukoetter1, *, Rudolf Mennigen1, Klaus Hahnenkamp2, Antje Gottschalk3, Matthias Boschin3, Michael Frosch4, Norbert Senninger1, Dirk Tübergen1, 5

Institutions

Institutions are listed at the end of article.

submitted 21. September 2014 accepted after revision 21. November 2014

In children with severe generalized recessive dystrophic epidermolysis bullosa (RDEB), esophageal scarring leads to esophageal strictures with dysphagia, followed by malnutrition and delayed development. We describe a two-step multidisciplinary therapeutic approach to overcome malnutrition and growth retardation. In Step 1, under general anesthesia, orthograde balloon dilation of the esophagus is followed by gastrostomy creation using a direct puncture technique. In Step 2, further esophageal strictures are treated by retrograde dilation via the established gastrostomy; this step requires only a short sedation period. A total of 12 patients (median age 7.8 years, range 6 weeks to 17 years) underwent successful orthograde balloon dilation of esophageal strictures

combined with direct puncture gastrostomy. After 12 and 24 months in 11 children, a substantial improvement of growth and nutrition was achieved (body mass index [BMI] standard deviation score [SDS] + 0.59 and + 0.61, respectively). In one child, gastrostomy was removed because of skin ulcerations after 10 days. Recurrent esophageal strictures were treated successfully in five children. The combined approach of balloon dilation and gastrostomy is technically safe in children with RDEB, and helps to promote catch-up growth and body weight. In addition, recurrent esophageal strictures can be treated successfully without general anesthesia in a retrograde manner via the established gastrostomy.

Introduction

nutrition. This was the rationale at the University Hospital in Muenster for the introduction of a two-step multidisciplinary approach.

Bibliography DOI http://dx.doi.org/ 10.1055/s-0034-1391308 Published online: 15.1.2015 Endoscopy 2015; 47: 541–544 © Georg Thieme Verlag KG Stuttgart · New York ISSN 0013-726X Corresponding author Thorsten Vowinkel, MD Department of General and Visceral Surgery University Hospital Muenster Waldeyerstrasse 1 48149 Muenster Germany Fax: +49–251–8356311 [email protected]

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Severe generalized recessive dystrophic epidermolysis bullosa (RDEB) is a subtype of epidermolysis bullosa, which is characterized by multiple organ involvement and severe complications starting in the first years of life [1]. Skin scarring leads to deformity (e. g. microstomia), and esophageal scarring leads to strictures with painful dysphagia followed by malnutrition and delayed development of the child [1, 2]. Up to 77 % of children with RDEB are reported to be at risk of significant malnutrition, with up to 86 % being underweight [3, 4]. The inability to take in adequate calories to maintain an anabolic condition because of mechanical issues, such as esophageal strictures, has become the main indication for intervention in these children [5]. The initial and most effective treatment has been shown to be balloon dilation, which can be carried out under fluoroscopic or endoscopic guidance [6]. Additional gastrostomy feeding substantially improves both growth and

* These authors contributed equally to this work.

Patients and methods !

A total of 12 children under 18 years of age (median 7.8 years, range 6 weeks to 17 years) who were referred to the University Hospital in Muenster with a diagnosis of severe generalized RDEB presented with dysphagia to either solids or liquids, oral cavity involvement, and with at least one esophageal stricture. All children were unable to meet their nutritional needs, and presented with delayed development and reduced body mass index standard deviation score (BMI-SDS; median SDS – 1.5). A team of pediatricians, anesthesiologists, and endoscopy-trained surgeons generally perform the techniques outlined in this article. All children presented esophageal strictures that required treatment first. In Step 1, the patient was intubated orally and received general anesthesia. Endoscopically guided balloon dilation (CRE Dilation

Vowinkel Thorsten et al. Treating esophageal strictures in pediatric epidermolysis bullosa … Endoscopy 2015; 47: 541–544

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A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica

Case series

Fig. 1 Step 1: orthograde dilation of the distal esophagus to 12 mm width using a balloon catheter via an endoscope. a Distal stricture. b Balloon catheter insertion. c Dilated esophagus.

Fig. 3 Step 2: the retrograde endoscopic approach. a Removal of the gastrostomy tube. b Established gastrostomy. c Endoscope insertion. d Placement of the endoscope in the distal esophagus. e Use of a guidewire. f A Seldinger technique is used to place the balloon catheter over the guidewire. g Placement of the balloon catheter into the distal esophagus.

Balloon; Wilson-Cook Medical Inc., Winston-Salem, North Caro" Fig. 1). Then, with the endolina, USA) was then performed (● scope positioned in the stomach, gastrostomy was performed under endoscopic guidance using a direct puncture technique (Fre" Fig. ka Pexact; Fresenius Kabi Ltd., Bad Homburg, Germany) (● e2, available online). In addition to clinical parameters for long-term follow-up, the assessment of the impact of gastrostomy and balloon dilation on the quality of life was based on children’s and parents’ feedback, obtained by interview either in person or by telephone. During follow-up, five children (median age 10.9 years) presented with recurrent esophageal strictures. These children under-

went Step 2, in which balloon dilations were performed in a retrograde manner via the established gastrostomy under sedation with midazolam and S-ketamine. Anesthesia monitoring and skin precautions have been described elsewhere [7]. In Step 2, the gastric feeding tube was first removed, and a 2.9-mm pediatric bronchoscope (Olympus, Tokyo, Japan) was introduced through the gastrostomy into the stomach and up to the distal " Fig. 3). For retrograde fluoroscopically guided balesophagus (● loon dilation, a 0.035-inch guidewire with a flexible tip (Boston Scientific Corp., Natick, Massachusetts, USA) was inserted. The wire guided the CRE dilation balloon (Wilson-Cook Medical Inc.) for dilation, up to a maximum of 12 mm under pulsed fluoro-

Vowinkel Thorsten et al. Treating esophageal strictures in pediatric epidermolysis bullosa … Endoscopy 2015; 47: 541–544

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542

Fig. 5 Retrograde endoscopic balloon dilation of stenosis. a Stricture in the distal esophagus. b Stricture in the middle part of the esophagus. c Balloon catheter. d Contrast examination after the procedure confirms dilation and absence of perforation.

scopic guidance. At the end of the retrograde procedure, contrast medium was used to confirm therapeutic success and esophageal integrity. The median follow-up after establishment of the gastrostomy was 6.4 years (range 9 months to 12 years).

sedation only, and no sedation-related complications occurred. Oral food intake was allowed after the procedure and the children were discharged on the following day.

Discussion !

Results !

The establishment of a gastrostomy using a direct puncture technique was successful in all children. In one child, gastrostomy needed to be removed because of skin ulcerations after 10 days. Apart from two uncomplicated wound infections, which were treated conservatively, no procedure-related complications were observed. After the gastrostomy procedure, children were allowed meals via the oral route plus regular tube feeding. This allowed the children to achieve catch-up growth and a percentile " Fig. e4, available onparallel growth and height development (● line). Both children and parents accepted the gastrostomy physically and psychologically, as confirmed by the follow-up interviews. After gastrostomy, the physical and mental stress between parents and children, particularly regarding the issue of “eating,” was said to be notably reduced. Chronic obstipation was also improved after gastrostomy, whereas skin manifestations of RDEB were not affected. Five children suffered from recurrent esophageal strictures, which limited oral intake and required further dilations. In these children, an average of 7.2 retrograde balloon dilations were per" Fig. 5). formed via the established gastrostomy (range 2 – 14) (● All retrograde dilations were performed with the patient under

Severe generalized RDEB is the most disabling type of epidermolysis bullosa, with the common complication of esophageal stricture resulting in dysphagia, followed by malnutrition and growth retardation [1]. The failure to thrive is also associated with a loss of social integration. Many patients show less social competence, and more social and emotional problems compared with healthy controls [8]. The current study has demonstrated that a two-step multidisciplinary approach helps children to receive adequate nutrition as a prerequisite to maintaining a normal body weight and growth velocity. Up to 50 % of children with severe generalized RDEB require gastrostomy insertion [9]. Therapy is indicated at the point when a negative weight SDS cannot be prevented by oral food supplementation. The current analysis suggests that pro-active treatment with early gastrostomy provides nutritional recovery, which in turn supports mental and physical development. A direct puncture technique was used to avoid shear forces to the hypopharynx and along the esophagus. With the approach described here, endoscopic procedures in children via the oral route can be minimized to one initial endoscopy for balloon dilation if necessary, followed by gastrostomy insertion under direct endoscopic visualization.

Vowinkel Thorsten et al. Treating esophageal strictures in pediatric epidermolysis bullosa … Endoscopy 2015; 47: 541–544

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Case series

Case series

During follow-up, treatment of recurrent esophageal strictures is important to ensure adequate oral food intake. A direct comparison between endoscopic and nonendoscopic dilation techniques, both of which have yielded similar results in separate studies, has not yet been performed [5, 6]. Some authors have described a retrograde dilation via gastrostomy but this was before orthograde dilation became possible [10]. We suggest as a second step, that once gastrostomy is established, every dilation of esophageal strictures should be performed via the retrograde route. The procedure requires only a short period of sedation with a quick recovery. This avoids tracheal intubation, which is often challenging even when fiberoptic intubation is used [7]. It is important to note that esophageal dilation, whether single or in series, can ease dysphagia, but cannot guarantee a sufficiently increased oral intake to reverse nutritional deficits, and therefore dilation is not a substitute for gastrostomy. The current study, from a referral epidermolysis bullosa center, has illustrated that gastrostomy and balloon dilation are complementary procedures, which can help to optimize treatment in this highly selective patient population. Competing interests: None Institutions 1 Department of General and Visceral Surgery, University Hospital Muenster, Muenster, Germany 2 Department of Anaesthesiology, Intensive Care, Emergency Medicine and Pain Medicine, University Medicine Greifswald, Greifswald, Germany 3 Department of Anaesthesiology and Intensive Care, University Hospital Muenster, Muenster, Germany 4 Department of General Paediatrics, University Hospital Muenster, Muenster, Germany 5 Clinic for Surgery, Coloproctology and Endoscopy, Muenster, Germany

References 1 Fine JD, Eady RAJ, Bauer EA et al. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB. J Am Acad Dermatol 2008; 58: 938 – 950 2 Herod J, Denyer J, Goldman A et al. Epidermolysis bullosa in children: pathophysiology, anaesthesia and pain management. Paediatr Anaesth 2002; 12: 388 – 397 3 Birge K. Nutrition management of patients with epidermolysis bullosa. J Am Diet Assoc 1995; 95: 575 – 579 4 Colomb V, Bourdon-Lannoy E, Lambe C et al. Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding. Br J Dermatol 2012; 166: 354 – 361 5 Mortell AE, Azizkhan RG. Epidermolysis bullosa: management of esophageal strictures and enteric access by gastrostomy. Dermatol Clin 2010; 28: 311 – 318 6 De Angelis P, Caldaro T, Torroni F et al. Esophageal stenosis in epidermolysis bullosum: a challenge for the endoscopist. J Pediatr Surg 2011; 46: 842 – 847 7 Gottschalk A, Venherm S, Vowinkel T et al. Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. Curr Opin Anaesthesiol 2010; 23: 518 – 522 8 Feldmann R, Weglage J, Frosch M. Cognitive function in patients with epidermolysis bullosa: social adjustment and emotional problems. Klin Padiatr 2012; 224: 22 – 25 9 Freeman EB, Koglmeier J, Martinez AE et al. Gastrointestinal complications of epidermolysis bullosa in children. Br J Dermatol 2008; 158: 1308 – 1314 10 Schuman BM, Arciniegas E. The management of esophageal complications of epidermolysis bullosa. Am J Dig Dis 1972; 17: 875 – 880

Figures e2 and e4 online content viewable at: www.thieme-connect.de

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A two-step multidisciplinary approach to treat recurrent esophageal strictures in children with epidermolysis bullosa dystrophica.

In children with severe generalized recessive dystrophic epidermolysis bullosa (RDEB), esophageal scarring leads to esophageal strictures with dysphag...
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