B. Fergie, C. Zhao, D. Murrell
Of the various extracutaneous manifestation of Epidermolysis
Bullosa (EB), bone health status needs more investigation.
Severe types of EB have been reported to have bone
problems, mainly osteopaenia, osteoporosis, or even fractures
mainly due to reduced mobility, impaired nutritional
intake, as well as hormonal factors and chronic infl ammation.
This paper looked at the incidence and severity of the
bone health status among 9 adult EB patients (both recessive
dystrophic EB and junctional EB). We reviewed their
Dual Energy Xray Absorptiometry (DEXA) scan reports and
correlated this with their serum bone marker levels
(calcium, phosphate, alkaline phosphatase, parathyroid hormone, and Vitamin D levels).
Results showed that 7/9 had persistent osteoporosis, 1/9 had osteopaenia, and 1/9never had a DEXA scan done prior to transition to the adult EB centre.
Most of them presented with fl uctuating Vitamin
D levels and needed intramuscular injection of high dose
Vitamin D. One out of 9 had elevated PTH levels, and also
had chronic renal impairment. One out of the 9 patients had
a history of trochanteric fracture, another had a spinal
stress fracture, and another had avascular necroses. All of
these patients have been on Calcium and Vitamin D tablets,
female patients were put on a contraceptive pill for bone
protection purposes, while 2 patients had bisphosphonate
treatment (Risedronate & Pamidronate). This paper supplements
the limited literature on bone health status in patients
with EB.