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Systematic review of case reports of patients diagnosed with "Congenital Insensitivity to Pain" that reported experiencing ...
John Quintner +2 more
core +6 more sources
Congenital insensitivity to pain and anhidrosis
Congenital insensitivity to pain and anhidrosis (CIPA) is a rare reported entity characterised by disturbance in the pain and temperature perception due to involvement of the autonomic and sensory nervous system. It is an autosomal recessive trait with several defects of the gene NTRK1 coding for the neurotrophic tyrosine kinase - a nerve growth factor
Sasnur, Ashok H +2 more
openaire +3 more sources
Congenital insensitivity to pain with anhidrosis is a rare autosomal-recessive disorder characterized by systemic anhidrosis, insensitivity to pain, mental retardation, osteomyelitis, and joint deformities which could result in amputations.
Ulger, Ozlem +2 more
core +2 more sources
Purpose: Congenital corneal anesthesia (CCA) is a rare clinical entity that poses a diagnostic dilemma, particularly in the pediatric age group with very little literature on this.
Madhumita Gopal +4 more
doaj +1 more source
Total hip arthroplasty in a patient with congenital insensitivity to pain: a case report
Introduction Congenital insensitivity to pain, a rare neurological entity, is characterized by varying degrees of sensory loss and autonomic dysfunction. Orthopedic manifestations of congenital insensitivity to pain include delayed diagnosis of fractures,
Erdil Mehmet +4 more
doaj +1 more source
Hereditary sensory and autonomic neuropathy type 4 (HSAN4), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare genetic disorder caused by NTRK1 gene mutations, affecting nerve growth factor signaling. This study investigates
Cheng-Chun Chiang +5 more
doaj +1 more source
Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain. [PDF]
Congenital insensitivity to pain is a rare human condition in which affected individuals do not experience pain throughout their lives. This study aimed to identify the molecular etiology of congenital insensitivity to pain in two Thai patients. Clinical,
Kantaputra P +14 more
europepmc +2 more sources
Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) is a rare autosomal recessive disorder caused by a defect in neurotrophic tyrosine kinase receptor and nerve growth factor, as reported in previous ...
林宜霈;蘇怡寧;翁妏謹;李旺祚 +1 more
core +1 more source
Background Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by hyperpyrexia, anhidrosis, pain insensitivity, self-inflicted injuries, and intellectual disability.
Cong Wang +4 more
doaj +1 more source
Congenital insensitivity to pain with anhidrosis
PubMedID: 9651783We present a five-year-old girl with congenital insensitivity to pain with anhidrosis. A skeletal radiographic survey revealed several old fractures.
Polat S. +3 more
core +2 more sources

