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The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV
Hereditary sensory autonomic neuropathy (HSAN) is a group of inherited disorders (total 5 types) that are associated with sensory dysfunction and varying degrees of autonomic dysfunction. HSAN type IV (HSAN-IV) or congenital insensitivity to pain and anhidrosis (CIPA) is a rare genetic disorder inhe...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728043/ https://www.ncbi.nlm.nih.gov/pubmed/32971688 http://dx.doi.org/10.4103/ijo.IJO_2101_19 |
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author | Sethi, Aditya Ramasubramanian, Srikanth Swaminathan, Meenakshi |
author_facet | Sethi, Aditya Ramasubramanian, Srikanth Swaminathan, Meenakshi |
author_sort | Sethi, Aditya |
collection | PubMed |
description | Hereditary sensory autonomic neuropathy (HSAN) is a group of inherited disorders (total 5 types) that are associated with sensory dysfunction and varying degrees of autonomic dysfunction. HSAN type IV (HSAN-IV) or congenital insensitivity to pain and anhidrosis (CIPA) is a rare genetic disorder inherited in an autosomal recessive manner. We report a case of this very rare genetic disease in a 3-year-old girl child, born to a family in north India with ocular features of neurotrophic keratitis. The diagnosis was made clinically based on the hallmark features of insensitivity to pain and temperature, anhidrosis, self-mutilating behavior with multiple recurrent oral ulcers, nasal bleeds, multiple trophic ulcers over joints, and decreased intellect. |
format | Online Article Text |
id | pubmed-7728043 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-77280432020-12-11 The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV Sethi, Aditya Ramasubramanian, Srikanth Swaminathan, Meenakshi Indian J Ophthalmol Case Reports Hereditary sensory autonomic neuropathy (HSAN) is a group of inherited disorders (total 5 types) that are associated with sensory dysfunction and varying degrees of autonomic dysfunction. HSAN type IV (HSAN-IV) or congenital insensitivity to pain and anhidrosis (CIPA) is a rare genetic disorder inherited in an autosomal recessive manner. We report a case of this very rare genetic disease in a 3-year-old girl child, born to a family in north India with ocular features of neurotrophic keratitis. The diagnosis was made clinically based on the hallmark features of insensitivity to pain and temperature, anhidrosis, self-mutilating behavior with multiple recurrent oral ulcers, nasal bleeds, multiple trophic ulcers over joints, and decreased intellect. Wolters Kluwer - Medknow 2020-10 2020-09-23 /pmc/articles/PMC7728043/ /pubmed/32971688 http://dx.doi.org/10.4103/ijo.IJO_2101_19 Text en Copyright: © 2020 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Reports Sethi, Aditya Ramasubramanian, Srikanth Swaminathan, Meenakshi The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV |
title | The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV |
title_full | The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV |
title_fullStr | The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV |
title_full_unstemmed | The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV |
title_short | The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV |
title_sort | painless eye: neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type iv |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728043/ https://www.ncbi.nlm.nih.gov/pubmed/32971688 http://dx.doi.org/10.4103/ijo.IJO_2101_19 |
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