Literature DB >> 25744033

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

D P Ashwin1, G D Chandan, Handa Kaur Jasleen, G C Rajkumar, K B Rudresh, R Prashanth.   

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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Year:  2015        PMID: 25744033     DOI: 10.1007/s10006-015-0486-5

Source DB:  PubMed          Journal:  Oral Maxillofac Surg        ISSN: 1865-1550


  18 in total

Review 1.  Congenital insensitivity to pain: an update.

Authors:  Elna M Nagasako; Anne Louise Oaklander; Robert H Dworkin
Journal:  Pain       Date:  2003-02       Impact factor: 6.961

2.  Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

Authors:  Y Indo; M Tsuruta; Y Hayashida; M A Karim; K Ohta; T Kawano; H Mitsubuchi; H Tonoki; Y Awaya; I Matsuda
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

3.  Orthodontic treatment and management of limited mouth opening and oral lesions in a patient with congenital insensitivity to pain: case report.

Authors:  S Paduano; G Iodice; M Farella; R Silva; A Michelotti
Journal:  J Oral Rehabil       Date:  2008-10-22       Impact factor: 3.837

4.  Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Authors:  S Mardy; Y Miura; F Endo; I Matsuda; L Sztriha; P Frossard; A Moosa; E A Ismail; A Macaya; G Andria; E Toscano; W Gibson; G E Graham; Y Indo
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

5.  Congenital insensitivity to pain. Orthopaedic manifestations.

Authors:  E Bar-On; D Weigl; R Parvari; K Katz; R Weitz; T Steinberg
Journal:  J Bone Joint Surg Br       Date:  2002-03

6.  Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis.

Authors:  M Nolano; C Crisci; L Santoro; F Barbieri; R Casale; W R Kennedy; G Wendelschafer-Crabb; V Provitera; N Di Lorenzo; G Caruso
Journal:  Clin Neurophysiol       Date:  2000-09       Impact factor: 3.708

7.  Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis.

Authors:  A Amano; S Akiyama; M Ikeda; I Morisaki
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod       Date:  1998-10

8.  Congenital sensory neuropathy with anhidrosis: orthopedic complication and management.

Authors:  A Mazar; H Z Herold; P A Vardy
Journal:  Clin Orthop Relat Res       Date:  1976 Jul-Aug       Impact factor: 4.176

9.  Congenital insensitivity to pain with anhidrosis: a case report.

Authors:  J S Kim; Y J Woo; G M Kim; C J Kim; J S Ma; T J Hwang; M C Lee
Journal:  J Korean Med Sci       Date:  1999-08       Impact factor: 2.153

10.  Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III.

Authors:  Vaughan G Macefield; Lucy Norcliffe-Kaufmann; Line Löken; Felicia B Axelrod; Horacio Kaufmann
Journal:  Int J Psychophysiol       Date:  2014-04-12       Impact factor: 2.997

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  5 in total

1.  Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report.

Authors:  Shamit Prabhu; Kevin Fortier; Lisa Newsome; Uday N Reebye
Journal:  Anesth Prog       Date:  2018

2.  The neurology clinic needs monkey research.

Authors:  Michael E Goldberg
Journal:  Proc Natl Acad Sci U S A       Date:  2019-12-23       Impact factor: 11.205

Review 3.  Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

Authors:  Warren G Tourtellotte
Journal:  Am J Pathol       Date:  2015-12-24       Impact factor: 4.307

Review 4.  Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

Authors:  Karim Elhennawy; Seif Reda; Christian Finke; Luitgard Graul-Neumann; Paul-Georg Jost-Brinkmann; Theodosia Bartzela
Journal:  J Med Case Rep       Date:  2017-08-15

5.  A case report: Anesthetic management for open-heart surgery in a child with congenital insensitivity to pain with anhidrosis.

Authors:  Jialong Jiang; Xuefeng Wang; Jicheng Hu; Sheng Wang
Journal:  Paediatr Anaesth       Date:  2022-07-07       Impact factor: 2.129

  5 in total

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