Paroxysmal extreme pain disorder (PEPD), originally named familial rectal pain syndrome, is a rare disorder whose most notable features are pain in the mandibular, ocular and rectal areas as well as flushing. PEPD often first manifests at the beginning of life, perhaps even in utero, with symptoms persisting throughout life. PEPD symptoms are reminiscent of primary erythromelalgia, as both result in flushing and episodic pain, though pain is typically present in the extremities for primary erythromelalgia. Both of these disorders have recently been shown to be allelic, both caused by mutations in the voltage-gated sodium channel NaV1.7 encoded by the gene SCN9A. PEPD also shares a genetic basis with channelopathy-associated insensitivity to pain, which causes hypo-sensitivity to pain.
Read more about Paroxysmal Extreme Pain Disorder: Symptoms and Signs, Diagnosis, Cause, Pathophysiology, Treatment/Management, Epidemiology, History
Famous quotes containing the words paroxysmal, extreme, pain and/or disorder:
“New York has never learnt the art of growing old by playing on all its pasts. Its present invents itself, from hour to hour, in the act of throwing away its previous accomplishments and challenging the future. A city composed of paroxysmal places in monumental reliefs.”
—Michel de Certeau (1925–1986)
“... goodness is of a modest nature, easily discouraged, and when much elbowed in early life by unabashed vices, is apt to retire into extreme privacy, so that it is more easily believed in by those who construct a selfish old gentleman theoretically, than by those who form the narrower judgments based on his personal acquaintance.”
—George Eliot [Mary Ann (or Marian)
“You can’t have operations without screams. Pain and the knife—they’re inseparable.”
—Jean Scott Rogers. Robert Day. Mr. Blount (Frank Pettingell)
“The doctor found, when she was dead,
Her last disorder mortal.”
—Oliver Goldsmith (1728–1774)