A case of bladder calculi in non-herlitz junctional epidermolysis bullosa

Case: A 22 year old gentleman with non-herlitz junctional epidermolysis bullosa (EB), who had a homozygous mutation in the LAMC2 gene, initially developed urinary symptoms in childhood (dysuria and haematuria) due to a urethral meatal stenosis. As a teenager, he had multiple urethral instrumentations and dilatations due to urethral strictures. This eventually led to insertion of a permanent suprapubic catheter (SPC) at the age of 18. The following year he had a lumbar spinal XR performed which showed multiple bladder calculi, the largest of which was 2cm. Due to the large number of stones he underwent cystolithotomy. The bladder calculi were removed under vision via a transverse suprapubic incision through the SPC tract. Biochemistry of the stones showed calcium oxalate and phosphate. The patient then had a 24 hour collection of urine which showed hypocitraturia, which can be a contributing factor to calcium oxalate stones and so he was advised to increase his intake of citrate.
Discussion: Patients with junctional EB have been found to have a 30% rate of genitourinary complications, with the most common being urinary retention and urethral meatal stenosis (1). Due to the risk of stenosis, recurrent instrumentation should be avoided where possible. This is the first reported case of EB-related bladder calculi; this complication could be a direct result of the disease, iatrogenic, or multifactorial.

Dr. Charlotte Gollins