Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis
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,...
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| Main Authors: | , , , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2021-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 2319-7250 10.4103/ijpd.IJPD_107_20 |