Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Congenital Insensitivity to Pain (CIP) is a very rare condition.

Affected people are entirely unable to feel pain. This is usually caused by faults in a handful of genes; genes that are normally involved in pain sensing. In 2015 a new pain gene was been identified called PRDM12.

 

The features of people with PRDM12 CIP were only briefly mentioned in the original paper. So, we set out to better describe the condition, how to make the diagnosis, and to suggest guidelines for management. We described the clinical features and natural history of five adults with PRDM12-CIP after seeing these people, taking a history and examination and then letter also administering a detailed questionnaire.

 

Our findings show that PRDM12-CIP has a number of key clinical features that allow it to be distinguished from other forms of CIP. Based on our findings we suggest management, over a patient’s lifetime, to prevent the serious complications of PRDM12-CIP such as corneal damage, severe infections, bone, and joint injuries. (By Drs. Geoff Woods and Stella Zhang, for the authors. http://jmg.bmj.com/content/early/2016/03/14/jmedgenet-2015-103646 )

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