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Journal of Orthopaedic Science

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01-09-2014 | Original Article

Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese

Authors: Yasu Zhang, Nobuhiko Haga

Published in: Journal of Orthopaedic Science | Issue 5/2014

Abstract

Background

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder with various skeletal complications; thus, a compilation of data on affected patients could provide a valuable resource for the management of this disease. The aim of this study was to ascertain and report the frequency, location, age of onset, cause, and management of skeletal complications in Japanese patients with CIPA.

Methods

The medical records of 14 CIPA patients in our institute and information on 77 patients reported in Japanese articles were analyzed. Data regarding skeletal-system complications, including location, symptom, major cause and management of fractures, joint dislocations, infections, and Charcot joints, were extracted.

Results

Fractures occurred in 59/91 patients (65 %), 91 % of them in the lower limbs. Joint dislocations occurred in 27/91 patients (30 %), 91 % of them in the hip joint. Bone and joint infections occurred in 22 patients (24 %) and Charcot joints in 26 patients (29 %); 62 % of infections and 87 % of Charcot joints developed in the lower limbs. Most fractures occurred from 1 to 7 years of age; there was no apparent relationship between age and other complications. The major known causes of bone disorders were minor trauma such as short falls; however, most were of unknown cause. Conservative therapy was used more frequently than surgery to manage fractures, dislocations, and Charcot joints.

Conclusions

These data show that most CIPA patients have skeletal complications, most of which occur in the lower limbs. Fractures are frequent between 1 and 7 years of age, whereas other bone disorders have no apparent age relationship. The major known causes of bone disorders were minor trauma such as short falls. Conservative therapy was more frequently used to manage fractures, dislocations, and Charcot joints.

Dyck PJ, Mellinger JF, Reagan TJ, Horowitz SJ, McDonald JW, Litchy WJ, Daube JR, Fealey RD, Go VL, Kao PC, Brimijoin WS, Lambert EH. Not ‘indifference to pain’ but varieties of hereditary sensory and autonomic neuropathy. Brain. 1983;106:373–90.PubMedCrossRef

Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol. 2012;71:569–72.PubMedCrossRef

Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996;13:485–8.PubMedCrossRef

Indo Y. Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Clin Auton Res. 2002;12:I20–32.PubMedCrossRef

Rotthier A, Baets J, Timmerman V, Janssens K. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol. 2012;8:73–85.PubMedCrossRef

Axelrod FB, Gold-von Simson G. Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis. 2007. doi:10.1186/1750-1172-2-39.PubMedPubMedCentral

Karmani S, Shedden R, De Sousa C. Orthopaedic manifestations of congenital insensitivity to pain. J R Soc Med. 2001;94:139–40.PubMedPubMedCentral

Feldman DS, Ruchelsman DE, Spencer DB, Straight JJ, Schweitzer ME, Axelrod FB. Peripheral arthropathy in hereditary sensory and autonomic neuropathy types III and IV. J Pediatr Orthop. 2009;29:91–7.PubMedCrossRef

Rosemberg S, Nagahashi SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol. 1994;11:50–6.PubMedCrossRef

10.

Iijima M, Haga N. Evaluation of nonnociceptive sensation in patients with congenital insensitivity to pain with anhidrosis. Childs Nerv Syst. 2010;26:1085–9.PubMedCrossRef

11.

Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R. Congenital insensitivity to pain with anhidrosis (CIPA) in Israel-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Am J Med Genet. 2000;92:353–60.PubMedCrossRef

12.

Schulman H, Tsodikow V, Einhorn M, Levy Y, Shorer Z, Hertzanu Y. Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of radiological findings. Pediatr Radiol. 2001;31:701–5.PubMedCrossRef

13.

Haga N, Kubota M, Miwa Z. Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. Am J Med Genet A. 2013;161:871–4.CrossRef

14.

Szöke G, Rényi-Vámos A, Bider MA. Osteoarticular manifestations of congenital insensitivity to pain with anhydrosis. Int Orthop. 1996;20:107–10.PubMedCrossRef

15.

Bar-On E, Weigl D, Parvari R, Katz K, Weitz R, Steinberg T. Congenital insensitivity to pain. Orthopaedic manifestations. J Bone Jt Surg Br. 2002;84:252–7.CrossRef

16.

Zhang Y, Ogata N, Yozu A, Haga N. Two-dimensional video gait analyses in patients with congenital insensitivity to pain. Dev Neurorehabil. 2013;16:266–70.PubMedCrossRef

17.

Köster G, von Knoch M, Willert HG. Unsuccessful surgical treatment of hip dislocation in congenital sensory neuropathy with anhidrosis. A case report. J Bone Jt Surg Br. 1999;81:102–5.CrossRef

18.

Rozentsveig V, Katz A, Weksler N, Schwartz A, Schilly M, Klein M, Gurman GM. The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis. Paediatr Anaesth. 2004;14:344–8.PubMedCrossRef

19.

Ali N, Sharma S, Sharma S, Kamal Y, Sharma S. Congenital insensitivity to pain with anhidrosis (HSAN Type IV), extremely rare syndrome that can be easily missed by bone and joint surgeons: a case report. Iran J Pediatr. 2012;22:559–63.PubMedPubMedCentral

Title: Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese
Authors: Yasu Zhang
Nobuhiko Haga
Publication date: 01-09-2014
Publisher: Springer Japan
Published in: Journal of Orthopaedic Science / Issue 5/2014
Print ISSN: 0949-2658
Electronic ISSN: 1436-2023
DOI: https://doi.org/10.1007/s00776-014-0595-2

At a glance: The STEP trials

Springer Medicine

Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese

Abstract

Background

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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