P03 EB or not EB? A report of two neonates with congenital blisters

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Abstract Neonatal compartment syndrome (NCS) is extremely rare, with less than 100 cases reported. The affected limb usually presents with significant swelling and sentinel skin changes such as desquamation, blisters and skin necrosis. Risk factors that predispose infants to a hypercoagulable state or trauma have been implicated, but the exact cause remains elusive. We report two neonates with no family history of note, except for oligohydramnios in patient 1, who presented with congenital bullae over the upper extremity which led to an open wound. They were both referred to our service with a provisional diagnosis of epidermolysis bullosa (EB). Patient 1 also presented with a reduction in spontaneous movements of the hand shortly after birth. The wound took weeks to heal with scaring and subcutaneous tissue and muscle loss resulting in significant ulnar deviation by age 9 weeks. This was managed with stretching exercises, splints and surgical intervention. Despite this there remained noticeable limb length discrepancy and functional limitations to date. Patient 2 had a lack range of motion and restricted passive motion on the affected limb by the age of 4 weeks. Subsequent neurophysiological studies showed evidence of a severe chronic median and ulnar neuropathy with distal axonal loss and a right radial neuropathy at the site of the scar. Clinically, both cases were in keeping with NCS. A skin biopsy and molecular analysis ruled out EB. NCS requires early recognition and intervention as it can lead to long-term sequelae including Volkmann contracture, limb length discrepancies and permanent nerve damage.

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