We report on 2 patients with congenital insensitivity to pain and anhydrosis. The first one was a 7-month-old boy who presented with non-traumatic, haematogenous septic dislocation of the right elbow with physeal separation of the distal humerus. The second one was a 3-year-old girl suspected to have Job syndrome with an altered immunological profile.
SasnurAHSasnurPAGhaus-UlRS. Congenital insensitivity to pain and anhidrosis. Indian J Orthop2011;45:269–71.
2.
SwansonAG. Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings. Arch Neurol1963;8:299–306.
3.
SwansonAGBuchanGCAlvordECJr. Anatomic changes in congenital insensitivity to pain. Absence of small primary sensory neurons in ganglia, roots, and Lissauer's tract. Arch Neurol1965;12:12–8.
4.
MirandaCDi VirgilioMSelleriSZanottiGPagliardiniSPierottiMA. Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations. J Biol Chem2002;277:6455–62.
5.
MardySMiuraYEndoFMatsudaISztrihaLFrossardP. Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am J Hum Genet1999;64:1570–9.
6.
MelamedILevyJParvariRGelfandEW. A novel lymphocyte signaling defect: Trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA). J Clin Immunol2004;24:441–8.
SmeyneRJKleinRSchnappALongLKBryantSLewinA. Severe sensory and sympathetic and neuropathies in mice carrying a disrupted Trk/NGF receptor gene. Nature1994;368:246–9.
9.
RafelEAlbercaRBautistaJNavarreteMLazoJ. Congenital insensitivity to pain with anhidrosis. Muscle Nerve1980;3:216–20.
10.
GreiderTD. Orthopedic aspects of congenital insensitivity to pain. Clin Orthop Relat Res1983;172:177–85.
11.
GuideraKJMulthoppHGaneyTOgdenJA. Orthopaedic manifestations of congenitally insensate patients. J Pediatr Orthop1990;10:514–21.
12.
MacEwenGDFloydGC. Congenital insensitivity to pain and its orthopedic implications. Clin Orthop Relat Res1970;68:100–7.
13.
DrummondRPRoseGK. A twenty-one-year review of a case of congenital indifference to pain. J Bone Joint Surg Br1975;57:241–3.
14.
Bar-OnEWeiglDParvariRKatzKWeitzRSteinbergT. Congenital insensitivity to pain. Orthopaedic manifestations. J Bone Joint Surg Br2002;84:252–7.
15.
GrimbacherBHollandSMGallinJIGreenbergFHillSCMalechHL. Hyper-IgE syndrome with recurrent infections—an autosomal dominant multisystem disorder. N Engl J Med1999;340:692–702.
16.
KilicSSOzturkRSarisozenBRotthierABaetsJTimmermanV. Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. Neurogenetics2009;10:161–5.
17.
MazarAHeroldHZVardyPA. Congenital sensory neuropathy with anhidrosis: Orthopedic complication and management. Clin Orthop Relat Res1976;118:184–7.
18.
KimJSWooYJKimGMKimCJMaJSHwangTJ. Congenital insensitivity to pain with anhidrosis: A case report. J Korean Med Sci1999;14:460–4.
19.
GuilleJTForlinEBowenJR. Charcot joint disease of the shoulders in a patient who had familial sensory neuropathy with anhidrosis. A case report. J Bone Joint Surg Am1992;74:1415–7.