Neglected painless wounds in a child with congenital insensitivity to pain

Neglected painless wounds in a child with congenital insensitivity to pain

A 13-year-old boy was brought by his mother for neglected toes wounds. There was a history of self-mutilation from first years of life with absence of normal reaction to painful stimuli. He had scars from injuries and he had self-mutilation of the distal thumb of the second finger on the right hand (A) and the first toe was missing on the left foot (B). Neurologic examination revealed decreased...

Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient

Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...

congenital insensitivity to pain with anhidrosis (cipa): a case report

[Congenital insensitivity to pain with anhydrosis].

Congenital insensitivity to pain with anhydrosis (CIPA) is a rare genetic disorder characterized by inability to feel pain and temperature, and decreased or absent sweating. Familiarity to this condition is important to avoid misdiagnosing it with leprosy and other peripheral nerve diseases. An inability to feel pain may lead to repeated self-trauma (tongue, lips and finger tips) ultimately lea...

Norrbottnian congenital insensitivity to pain.

Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical regio...