Background: Inherited epidermolysis bullosa (EB) comprises a cluster of genetic disorders characterized by blistering of skin and mucosae following minimal mechanical traumas. Severely affected individuals have high risk of extracutaneous complications, including chronic undernourishment and low bone mass.
Objective and hypotheses: The aims of this study were to assess the areal bone mineral density (aBMD) and vitamin D status of children and adolescents with generalized forms of EB; and to search for clinical and biochemical parameters correlated to the aBMD.
Method: Fourteen patients with EB (mean age 10.6±3.5 years; 8 females) and 42 healthy controls (mean age 9.9±3.1 years; 23 females) were evaluated for anthropometry, serum 25-hydroxy-vitamin D (25OHD), and adjusted for height-age lumbar spine (L1L4) and total-body-less-head (TBLH) aBMD obtained through dual X-ray absorptiometry scans. EB patients had also complementary biochemical evaluation and were scored according to their mobility level.
Results: Six patients presented EB simplex -EBS (three females) and eight presented the severe recessive dystrophic EB -RDEB (five females). 25OHD and TBLH aBMD Z-scores were not different between EB group (30.7±6.1 ng/ml; 0.1±0.8 SDS) and controls (25.2±10.7 ng/ml, P=0.36; 0.3±1.0 SDS, P=0.424, respectively); neither between EBS (30.2±5.9 ng/ml; − 0.2±0.5 SDS) and RDEB (31.0±6.9 ng/ml, P=0.835; 0.3±0.9 SDS, P=0.24, respectively) groups. DREB group (the more severely affected) presented lower Z-scores of height (−2.3±1.3 SDS), weight (−3.8±1.8 SDS) and L1L4 aBMD (−1.9±0.9 SDS) compared with EBS group (0.1±1.0 SDS, P=0.004; −0.2±0.9 SDS, P=0.0008; −0.4±0.6 SDS, P=0.0052, respectively). Two patients with DREB presented lumbar spine fractures. Low mobility was significantly associated with lower height, weight and L1L4 aBMD Z-scores.
Conclusion: Disease severity and low mobility are clinical parameters significantly associated with both compromised nutritional status and reduced L1L4 bone mass in children and adolescents with generalized EB. Clinical osteoporosis is an actual occurring event among paediatric patients with DREB.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology