Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Paroxysmal extreme pain disorder

A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.

Sensory neuropathy

Peripheral neuropathy affecting the sensory nerves.

Total: 1

(per page)

PMID (PMCID)
23129781 (3594382)	MIXED_SAMPLE	Child
	Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.
	Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ. J Neurol Neurosurg Psychiatry. 2013;84(4):386-91.
	Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy.