| CASE REPORT |
|
| Year : 2020 | Volume
: 65
| Issue : 4 | Page : 299-303 |
|
|
Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation
Shital Poojary, Saurabh Jaiswal, Kapisha Sunny Shah, Krishna B Bhalala
Department of Dermatology, Venereology and Leprology, K. J. Somaiya Medical College, Mumbai, Maharashtra, India
Correspondence Address:
Shital Poojary
OPD 26, 6th Floor, Department of Dermatology, Venereology and Leprology, K. J. Somaiya Medical College, Everard Nagar, Sion Chunnabhatti, Mumbai - 400 022, Maharashtra
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijd.IJD_416_18
|
|
|
Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation. We report a new variant of HSAN (Type IX) in two siblings (of Indian origin) with a novel mutation of SCN11Agene and a distinct clinical phenotype.
|
|
|
|
| [FULL TEXT] [PDF]* |
|
 |
|
