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Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature

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Abstract

Hereditary sensory and autonomic neuropathy (HSAN) IV is a rare autosomal recessive disorder which is characterized by a decrease in the number of myelinated and non-myelinated nerve fibers of peripheral nerves which causes diminished or absent pain sensation leading to increase in self-mutilative habits. A retrospective study of eight cases ranging from age group of 4 to 17 years for oral and digital signs and symptoms is presented. All the patients showed congenital insensitivity to pain and anhidrosis. Oral self-mutilations, such as autoextraction of teeth and severe bite injuries (with resultant scarring) of the finger tips and oral soft tissues (tongue, lip, and buccal mucosa) were found in most patients. Our study suggests that early diagnosis and specific treatment plan are important for prevention of characteristic of the oral as well as digital trauma associated with this disorder.

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References

  1. Karthikeyan M, Sreenivas T, Menon J, Patro K (2013) Congenital insensitivity to pain and anhidrosis: a report of two cases. Indian J Orthop 21(1):125–128

    Google Scholar 

  2. Sasnur AH, Sasnur PA, Ghaus-Ul RS (2011) Congenital insensitivity to pain and anhidrosis. Indian J Orthop 45:269–271

    Article  PubMed Central  PubMed  Google Scholar 

  3. Dyck PJ (1993) Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dick PJ, Thomas PK, Griffin JW, Low PA, Griffin JW, Low PA et al (eds) Peripheral neuropath. WB Saunders, Philadelphia, pp 1065–1093

    Google Scholar 

  4. Amano A, Akiyama S, Ikeda M, Morisaki I (1998) Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 86:425–431

    Article  CAS  PubMed  Google Scholar 

  5. Paduano S, Iodice G, Farella M, Silva R, Michelotti A (2009) Orthodontic treatment and management of limited mouth opening and oral lesions in a patient with congenital insensitivity to pain: case report. J Oral Rehabil 36:71–78

    Article  CAS  PubMed  Google Scholar 

  6. Macefield VG, Kaufmann LN, Löken L, Axelrod FB (2014) Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III. Int J Psychophysiol 93:56–61

    Article  PubMed Central  PubMed  Google Scholar 

  7. Nagasako EM, Oaklander AL, Dworkin RH (2003) Congenital insensitivity to pain: an update. Pain 101:213–219

    Article  PubMed  Google Scholar 

  8. Indo Y, Tsuruta M, Hayashida Y, Karin MA, Ohta K, Kawano T (1996) Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 13:485–488

    Article  CAS  PubMed  Google Scholar 

  9. Mardy S, Miura Y, Endo F (1999) Congenital insensitivity to pain with anhidrosis: novel mutation in the TRKA(NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am J Hum Genet 64:1570–1579

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  10. Butler J, Fleming P, Webb D (2006) Congenital insensitivity to pain—review and report of a case with dental implications. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 101:58–62

    Article  PubMed  Google Scholar 

  11. Kumar AV, Jaishankar HP, Naik P (2014) Congenital insensitivity to pain: review with dental implications. Indian J Pain 28:13–17

    Article  Google Scholar 

  12. Bar-On E, Weigl D, Parvari R, Katz K, Weitz R, Steinberg T (2002) Congenital insensitivity to pain. Orthopaedic manifestations. J Bone Joint Surg (Br) 84:252–257

    Article  CAS  Google Scholar 

  13. Mazar A, Herold HZ, Vardy PA (1976) Congenital sensory neuropathy with anhidrosis: orthopedic complication and management. Clin Orthop Relat Res 118:184–187

    PubMed  Google Scholar 

  14. Kim JS, Woo YJ, Kim GM, Kim CJ, Ma JS, Hwang TJ (1999) Congenital insensitivity to pain with anhidrosis: a case report. J Korean Med Sci 14:460–464

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  15. Dave N, Sonawane A, Chandolkar S (2007) Hereditary sensory autonomic neuropathy and anaesthesia – a case report. Indian J Anesth 51(6):528–530

    Google Scholar 

  16. Toscano E, Simonati A, Indo Y, Andria G (2002) No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V. Ann Neurol 52:224–227

    Article  PubMed  Google Scholar 

  17. Pinsky L, Di George AM (1966) Congenital familial sensory neuropathy with anhidrosis. J Pediatr 68:1–13

    Article  CAS  PubMed  Google Scholar 

  18. Indo Y (2008) Congenital insensitivity to pain with anhidrosis. Available at: http://www.genetests.org/. Accessed 28 Feb 2015

  19. Nolano M, Crisci C, Santoro L (2000) Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol 111:1596–1601

    Article  CAS  PubMed  Google Scholar 

  20. Freeman R (2005) Autonomic peripheral neuropathy. Lancet 365:1259–1270

    Article  CAS  PubMed  Google Scholar 

  21. Oddoux C, Reich E, Axelrod F, Blumenfeld A, Maayan C, Slaughenhaupt S (1995) Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenat Diagn 15:817–826

    Article  CAS  PubMed  Google Scholar 

  22. Redouani LK, Ploton D, Abely M (2004) Hereditary sensory neuropathy with spastic paraplegia. Eur J Paediatr Neurol 8:95–99

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Oral and Maxillofacial Surgery, Vokkaligara Sanga Dental College and Hospital, Bangalore, India

    D. P. Ashwin, Handa Kaur Jasleen, G. C. Rajkumar, K. B. Rudresh & R. Prashanth

  2. Department of Pedodontics and Preventive Dentistry, Vokkaligara Sanga Dental College and Hospital, Bangalore, India

    G. D. Chandan

Authors
  1. D. P. Ashwin
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  2. G. D. Chandan
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  3. Handa Kaur Jasleen
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  4. G. C. Rajkumar
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  5. K. B. Rudresh
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  6. R. Prashanth
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Corresponding author

Correspondence to G. C. Rajkumar.

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Ashwin, D.P., Chandan, G.D., Jasleen, H.K. et al. Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature. Oral Maxillofac Surg 19, 117–123 (2015). https://doi.org/10.1007/s10006-015-0486-5

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  • DOI: https://doi.org/10.1007/s10006-015-0486-5

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