دورية أكاديمية
Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis
| العنوان: | Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis |
|---|---|
| المؤلفون: | Aradhana Rout, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar |
| المصدر: | Indian Journal of Paediatric Dermatology, Vol 22, Iss 3, Pp 260-263 (2021) |
| بيانات النشر: | Wolters Kluwer Medknow Publications, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Dermatology LCC:Pediatrics |
| مصطلحات موضوعية: | anhidrosis, compensatory hyperhidrosis, congenital insensitivity to pain, hereditary sensory and autonomic neuropathy, self-mutilation, Dermatology, RL1-803, Pediatrics, RJ1-570 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2319-7250 |
| العلاقة: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2021;volume=22;issue=3;spage=260;epage=263;aulast=RoutTest; https://doaj.org/toc/2319-7250Test |
| DOI: | 10.4103/ijpd.IJPD_107_20 |
| الوصول الحر: | https://doaj.org/article/2443a9c3e46446dc8ce111ed133f8dc9Test |
| رقم الانضمام: | edsdoj.2443a9c3e46446dc8ce111ed133f8dc9 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 23197250 |
|---|---|
| DOI: | 10.4103/ijpd.IJPD_107_20 |