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CASE REPORT
Year : 2021  |  Volume : 22  |  Issue : 3  |  Page : 260-263

Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis


1 Department of Dermatology, Command Hospital Air Force, Bengaluru, Karnataka, India
2 Department of Pediatrics, Command Hospital Air Force, Bengaluru, Karnataka, India

Correspondence Address:
Sandeep Arora
Department of Dermatology, Command Hospital Air Force, Bengaluru - 560 007, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_107_20

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Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating behavior, insensitivity to pain, temperature, and anhidrosis with compensatory hyperhidrosis. Exome sequencing revealed a mutation of the SCN9A gene at chromosome 2 with nucleotide change c. G554A/p. Arg185His at exon 5 along with HSPB1 mutation at chromosome 5.


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