Unusual Bone Lesions with Osteonecrosis Mimicking Bone Metastasis of Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa.

Some bone lesions are reported to mimic bone metastasis on imaging tests. Herein, we report a case of a 55-year-old Japanese man who presented with a skin tumor on the left lower extremity. He also had a history of recurrent generalized cutaneous blister and erosion formation since childhood. His skin lesions were diagnosed as cutaneous squamous cell carcinoma complicated by recessive dystrophic epidermolysis bullosa. Magnetic resonance imaging of the left lower extremity detected multiple focal bone lesions mimicking bone metastases in the left femur and tibia. However, bone biopsy revealed that the bone lesions were osteonecrosis without tumor cells. We suggest that cancer-induced osteonecrosis should be included in the differential diagnosis of bone lesions suspected of being metastases on magnetic resonance imaging.

Fluoroscopically guided dilation of esophageal strictures in patients with dystrophic epidermolysis bullosa: long-term results.

OBJECTIVE: The purpose of this study was to investigate the immediate and long-term outcomes after fluoroscopically guided balloon dilation of esophageal strictures in a series of patients with dystrophic epidermolysis bullosa (DEB). MATERIALS AND METHODS: Between 2005 and 2011, the medical records of all patients with DEB treated with fluoroscopically guided balloon dilation of esophageal strictures were included in the study and retrospectively analyzed. The indication for treatment was dysphagia attributed to at least one radiologically verified esophageal stricture. The primary endpoints of the study included procedural technical success, clinical improvement assessed with a 0-4 dysphagia score, and major complication rate. Secondary endpoints were patient survival and reintervention rates. RESULTS: Nineteen consecutively registered patients with DEB (age range, 10-51 years; mean, 30 ± 12.2 years) and dysphagia due to esophageal strictures were treated with fluoroscopically guided balloon dilation. In total, 90 procedures and 121 dilations were performed to manage 28 lesions. Balloon diameter ranged from 8 to 18 mm. The mean follow-up time was 47.51 ± 16.64 months (range, 17-73 months). The technical success rate was 96.7% (87/90). There were no major complications. The mean reintervention rate was 1.19 dilations per patient per year, and the postprocedural dysphagia score (0.72 [95% CI, 0.56-0.87]) was significantly lower than baseline (2.50 [95% CI 2.35-2.65]) (p < 0.001). CONCLUSION: Repeated fluoroscopically guided balloon dilation is safe and effective for the management of dysphagia caused by esophageal strictures in DEB. Use of this technique was associated with marked clinical improvement in dysphagia and satisfactory long-term reintervention rates with no major complications.

Fluoroscopically guided endoluminal balloon dilation of oesophageal stricture due to dystrophic epidermolysis bullosa in two sisters.

Dystrophic epidermolysis bullosa is an inherited disorder with frequent oesophageal stricture formation. There is no satisfactory medical treatment of dysphagia however; endoluminal balloon dilation is a novel method with satisfactory results. Intrafamilial cases of dystrophic epidermolysis bullosa manifest variable clinical presentations. We report two sisters with dystrophic epidermolysis bullosa simultaneously presenting with dysphagia. Fluoroscopically guided endoscopic balloon dilation revealed almost complete resolution of dysphagia in both patients. Our cases represented a striking similarity in their clinical picture and response to treatment. Balloon dilation in these cases is a safe and effective approach.

Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations.

We report a 9-year-old girl who experienced recurrent dysphagia since infancy. Crohn's disease was suspected because she had aphthous ulcers of the mouth and anal dermatitis with hematochezia. After bougienages of esophageal stenoses and medication for inflammatory bowel disease proved unsuccessful, interdisciplinary re-examination revealed the cause of the symptoms to be an extracutaneous form of dystrophic epidermolysis bullosa, a genetic skin fragility disorder. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, a protein of the epidermal attachment complex, and typically manifests with trauma-induced skin blistering, scarring, nail dystrophy, and, in some cases, mucosal involvement. The present proband never developed skin blisters but had nail dystrophy and erosions of the oral, esophageal, and genitoanal mucosa, which healed with slight scarring. Mutation analysis disclosed compound heterozygosity for recessive mutations in the COL7A1 gene. The paternal mutation 425 A-->G caused abnormal splicing resulting in a premature stop codon. The maternal mutation G2775S led to the substitution of a glycine by a serine in the triple helical domain of collagen VII. This case shows that mucosal disease and esophageal strictures in childhood are not always acquired, but can also represent a genetic defect of dermal-epidermal adhesion, even in the absence of skin blistering.

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.

The musculoskeletal manifestations of epidermolysis bullosa: an analysis of 19 cases with a review of the literature.

Epidermolysis bullosa encompasses a group of rare disorders characterized by marked skin fragility and blister formation. In patients with dystrophic epidermolysis bullosa, skeletal and soft-tissue abnormalities are an important feature. An analysis of the musculoskeletal manifestations in 19 patients is presented. In the hands and feet, features included generalized osteoporosis, wedge-shaped thinning and hooking of distal phalanges, overconstricted bones, acro-osteolysis, flexion contractures, metatarsal and metacarpal subluxation, distal trophic changes, webbing of digits, encasement of the whole extremity in a pouch of skin, soft-tissue calcification and retarded skeletal maturity. Previously undescribed findings in the hands and feet are bony ankylosis of the proximal interphalangeal joints, resorption of the metatarsal and metacarpal heads, shortened metatarsal bones, carpal and tarsal fusion and destruction, and cystic changes of the distal radius and ulna. In the remainder of the skeleton, hip dysplasia with premature osteoarthritis, knee joint bony ankylosis and thoracic and thoraco-lumbar scoliosis are other undescribed findings.