Background: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural history have not yet been reported.
Methods: We have ascertained five adult patients and report their clinical features.
Results: Based on our findings, and those of previous patients, we describe the natural history of the PRDM12-CIP disorder, and derive diagnostic and management features to guide the clinical management of patients.
Conclusions: PRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications.
Keywords: charcot's joints; insensitivity to pain; keratitis; neuropathy; staphylococcus.
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