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Indifference to Pain, Congenital, Autosomal Recessive; CIP

Indifference to Pain, Congenital, Autosomal Recessive; CIP

OMIM number: 243000

Comments closing date: 16/01/2023

Congenital insensitivity to pain (CIP) is an
extremely rare condition characterized by a
congenital inability to perceive pain. Individuals
affected do not feel pain from any stimuli, also
including inflammation and heat. This can lead to
repeated injuries, failure to recognize injuries and
prevents normal healing. People with CIP are born
with a mutation in both of their SCN9A genes –
this is a recessive disorder. Note that forms of
recessive CIP has also been associated with other
genes, particularly CLTCL1, NGF, NTRK1 or
PRDM12. Inability to perceive pain prevents
individuals to realise they are injured, and to treat
lesions adequately. This can lead to cuts, bruises,
burns, mutilating injuries and recurrent infections.
Deformities can develop because of unrecognized
and untreated fractures and joint damage. Injuries
in oral cavity can damage permanently tongue,
teeth and gums, and avulsion of teeth are
common. Recurrent otitis can lead to hearing loss.
Lack of sense of smell (anosmia) might lead to
food poisoning. Individuals affected with CIP
associated with the SCN9A gene do not usually
have intellectual disabilities. Life expectancy can
be reduced in relation to injuries, secondary
disabilities and/or chronic medical problems. While
there is no cure for this condition, each symptom
can be treated on its merits. Treatment is
supportive and should be multidisciplinary,
involving paediatrics, orthopaedics, dentistry,
ophthalmology, and dermatology. Management of
this condition requires a proactive approach with
periodic thorough examinations to monitor for
potential lesions and infections. Affected
individuals are advised to avoid activities which
can potentially increase the risk of injuries, for
instance high-impact or contact sports, as well as
any environmental situation or tool which could
lead to temperature-related injuries, for instance                                                                   too hot or cold environments, foods, showers or
baths and so forth.

Review date: 5 January 2025