Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study.

Dilated cardiomyopathy (DC) has been reported in severe epidermolysis bullosa (EB) subtypes. Poor nutritional status, low carnitine levels, selenium deficiency, chronic iron overload, drugs and viral etiology have been proposed as potential contributors. This was a retrospective, descriptive, multicenter study describing EB patients that developed DC, and determining potential pre-disposing risk factors. Fifteen patients were enrolled in the study; 11 of them were male subjects (73%). Eighty-seven per cent of the participants had dystrophic EB and 13% had junctional EB. Mean age at diagnosis of DC was 12.18 +/- 4.99 years. Chronic anemia was diagnosed in 13 of 15 patients (86.7%). Sixty per cent of patients had prior red blood cell transfusions. At diagnosis, selenium levels were low in 55% of the patients (n = 11) and total carnitine levels were low in 45% of the patients (n = 11). Systolic function was moderately impaired, with a mean shortening fraction of 19.38% (SD = 5.04, n = 8). After a mean follow-up period of 6.3 +/- 4.8 years, six patients were alive without being on any medications (40.0%), two were alive on medications (13.3%) and seven had died (46.7%). Limitations of the study was that it was a retrospective chart review with relatively small sample size. Retrospective chart review, relatively small sample size. This study substantiates the association between DC and EB. Currently, there is no single risk factor identified in EB patients that leads to DC. Further prospective studies are needed.

Non-endoscopic percutaneous gastrostomy placement in children with recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is associated with high nutritional demands, esophageal strictures and dysphagia. About one quarter of the patients require gastrostomy tube placement to maintain adequate nutritional status. To minimize trauma to the skin and pharyngoesophageal mucosa caused by commonly used gastrostomy tube insertion techniques, we used a non-endoscopic, percutaneous, image-guided approach. This approach combines the use of ultrasound for mapping of the liver and spleen, water-soluble contrast enema to visualize the colon, and gastric insufflation to define the stomach. The gastrostomy tube is replaced by a low-profile button gastrostomy tube 10-12 weeks postoperatively. The five female patients reported in this series ranged in age from 6 to 9 years. They all tolerated the procedure well and no perioperative complications were encountered. All were able to tolerate feedings on postoperative day 1 and all underwent successful replacement of gastrostomy tubes by low-profile button tubes. Our experience suggests that a non-endoscopic, image-guided approach to gastrostomy tube placement offers a safe, effective, and minimally traumatic alternative to more commonly used approaches. It minimizes the risk of procedure-related morbidity and leads to overall improvement in the quality of life. As such, we strongly recommend that it be included in the treatment armamentarium for patients with epidermolysis bullosa and nutritional failure.