Biallelic PRDM12 mutations in MiTES

Summary Mid‐face Toddler Excoriation Syndrome (MiTES) is a newly recognised condition in which apparently healthy children persistently scratch their faces in a localised area centred on the bridge of the nose. The problem starts in the first year of life and results in deep wounds and severe scarring. It can easily be mistaken for child abuse. The cause was unknown, but a clue came from a paper published in 2015 describing 11 families with congenital insensitivity to pain who had mutations in a newly recognised gene called PRDM12, which codes for a protein essential to the development of pain‐receptor nerves. Most patients with PRDM12 mutations suffer mutilating damage to their extremities because they lack the pain responses essential to avoid injury. However, one of the 11 families was more mildly affected, the 5 affected siblings having a condition described as “perinasal picking” which appeared the same as MiTES. Therefore this team from England, India and Ireland analysed PRDM12 in 5 new cases of MiTES. Four children, 2 of whom were siblings, had the same PRDM12 mutation as in the earlier report while no mutation was found in the fifth child. In most cases the parents were related and carried the mutation on one gene while the affected child had it on both. This study confirms MiTES as a genetic disorder, caused in some cases by recessive mutations in PRDM12 . This new finding will help our understanding, and hopefully management, of children with this distressing and disfiguring condition.