ICCBH2017 Poster Presentations (1) (209 abstracts)
Background: Epidermolysis bullosa (BE) is a group of inherited diseases that are characterized by skin and mucosal fragility and blister formation. The various complications such as malnutrition, anemia, growth retardation, esophageal stenosis and deformities may develop. Low bone mass and fractures recognized as complications of generalized forms of EB.
Presenting problem: In the Ukrainian medical center of osteoporosis there were examined nine children with generalized recessive dystrophic form BE from 10 to 18 years old. Low bone mass was diagnosed in 36.4% cases after adjusting for height Z-score. Nobody had fractures. All children were prescribed the calcium (1000 mg) and vitamin D (1800 IU) supplements. In seven months after examination one of the patients who had normal BMD (aBMD Z-score at total body −1.7 S.D. and −1.8 at the level L1-L4) and degraded TBS (0.851) was diagnosed with multiple vertebral fractures. His 25(OH)D level was 15.8 ng/ml, calcium - 2.46 mmol/l, β-CTx - 1.05 ng/ml, P1NP - 160.3 ng/ml, alkaline phosphatase - 79.72 Un/l (norm 26117). Patient complained of severe low back pain which reduced his mobility.
Clinical management: The diagnosed vertebral fractures due to osteoporosis are indication to bisphosphonate therapy. Patient was prescribed Pamidronate in doses 1 mg/kg/infusion. Unfortunately the prescribed osteotropic treatment in combination with analgesics did not release the pain syndrome and did not improve mobility of the child during next 3 months.
Discussion: Patients with BE are suffering with chronic pain syndrome which have substantial effects on their quality of life while vertebral fractures due to osteoporosis may incredibly increase the pain syndrome. However, in children the low bone density without history of clinically significant fragility fracture is not indication to the specific osteotropic treatment. Vertebral fractures prevention for children with BE is extremely important.
Disclosure: The authors declared no competing interests.