Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis

• Main Authors: Aradhana Rout, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2021-01-01
• Series: Indian Journal of Paediatric Dermatology
• Subjects: anhidrosis; compensatory hyperhidrosis; congenital insensitivity to pain; hereditary sensory and autonomic neuropathy; self-mutilation
• Online Access: http://www.ijpd.in/article.asp?issn=2319-7250;year=2021;volume=22;issue=3;spage=260;epage=263;aulast=Rout

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.