Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.
Erythromelalgia is a rare clinical syndrome characterized by intermittent heat, redness, swelling and pain more commonly affecting the lower extremities. Symptoms are mostly aggravated by warmth and are eased by a cold temperature. In some cases, symptoms can be very severe and disabling. Erythromelalgia can be classified as either familial or sporadic, with the familial form inherited in an autosomal dominant manner. Recently, there has been a lot of progress in studying Na(v)1.7 sodium channels (expressed mostly in the sympathetic and nociceptive small-diameter sensory neurons of the dorsal root ganglion) and different mutations affecting the encoding SCN9A gene that leads to channelopathies responsible for some disorders, including primary erythromelalgia. We present a severe case of progressive primary erythromelalgia caused by a new de novo heterozygous missense mutation (c.2623C>G) of the SCN9A gene which substitutes glutamine 875 by glutamic acid (p.Q875E). To our knowledge, this mutation has not been previously reported in the literature. We also provided a short literature review about erythromelalgia and Na(v) sodium channelopathies.
Vascular Medicine, Mayo Clinic, Rochester, MN, USA. nskeik@yahoo.com
Nedaa
N
Skeik
Thom W
TW
Rooke
Mark Denis P
MD
Davis
Dawn Marie R
DM
Davis
Henna
H
Kalsi
Ingo
I
Kurth
Randal C
RC
Richardson
D000293:Adolescent; D000595:Amino Acid Sequence; D004916:Erythromelalgia / Q000235:genetics*; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D062556:NAV1.7 Voltage-Gated Sodium Channel; D010146:Pain / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism
D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human; D015222:Sodium Channels