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...

there are few reports about congenital indifference to pain or hereditary and sensory autonomic neuropathy (hsan). several investigations for pathophysiology of this syndrome have been performed and different classifications about it. in this report we present a case of hsan type ii with general absence of pain and self amputations and leprosy–like damage of extremities which was suspected to b...

Hereditary sensory and autonomic neuropathy type III (HSAN III, Riley-Day syndrome, Familial Dysautomia) is characterised by elevated thermal thresholds and an indifference to pain. Using microelectrode recordings we recently showed that these patients possess no functional stretch-sensitive mechanoreceptors in their muscles (muscle spindles), a feature that may explain their lack of stretch re...

the maxillary first premolar may present large number of anatomic variations. the clinician should be aware of the configuration of the pulp system. maxillary first premolars usually have two canals. the incidence of three canals in these teeth is quite rare. this case report presents the diagnosis and clinical management of a maxillary first premolar with two distinct canals in the apical thir...

Introducción: La insensibilidad congénita al dolor con anhidrosis (HSAN-IV o CIPA) es una enfermedad rara sintomatología multisistémica, que impacta el funcionamiento cognitivo, afectando negativamente la calidad de vida los pacientes y sus familias. Se estima mayoría individuos mueren antes tres años por las complicaciones esta genera. Objetivo: Es propósito este articulo realizar revisión clí...

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...

Hereditary sensory and autonomic neuropathy type III (HSAN III) features disturbed proprioception and a marked ataxic gait. We recently showed that joint angle matching error at the knee is positively correlated with the degree of ataxia. Using intraneural microelectrodes, we also documented that these patients lack functional muscle spindle afferents but have preserved large-diameter cutaneous...

First described in 1932 by Dearborn as 'congenital pure analgesia', congenital insensitivity to pain and anhydrosis (CIPA) or hereditary sensory and autonomic neuropathy (HSAN) type IV is an extremely rare autosomal recessive disorder. A 7-year-old female child who is an established case of congenital insensitivity to pain and anhydrosis visited the department of pediatric medicine with osteoar...