PubMed · 14371067
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T PERZYNA. 1954. [Erythromelalgia].. https://pubmed.ncbi.nlm.nih.gov/14371067/
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Primary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (NaV1.7). NaV1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia.
Several new mushroom poisoning syndromes have been described since the early 1990s. In these syndromes, the onset of symptoms generally occurs >6 hours after ingestion. Treatment is mainly supportive. The syndrome induced by Amanita smithiana/proxima consists of acute tubulopathy, which appears earlier and does not have the same poor prognosis as the orellanine-induced syndrome. It has been described since 1992 in the US and Canada with A. smithiana; in France, Spain and Italy with A. proxima; and in Japan with A. pseudoporphyria. The responsible toxin is probably 2-amino-4,5-hexadienoic acid. The erythromelalgia syndrome has been described as early as the late 19th century in Japan and South Korea with Clitocybe acromelalga, and since 1996 in France and then Italy with C. amoenolens. Responsible toxins are probably acromelic acids identified in both species. Several cases of massive rhabdomyolysis have been reported since 1993 in France and 2001 in Poland after ingestion of large amounts of an edible and, until then, valuable species called Tricholoma equestre. These cases of rhabdomyolysis are associated with respiratory and cardiac (myocarditis) complications leading to death. Rhabdomyolysis with an apparently different mechanism was described in Taiwan in 2001 with Russula subnigricans. Finally, cases of encephalopathy were observed twice after ingestion of Hapalopilus rutilans in Germany in 1992 and Pleurocybella porrigens in Japan in 2004, where a convulsive encephalopathy outbreak was reported in patients with history of chronic renal failure.
Among over 300 genodernatoses, causative genes have been identified in 170 monogenetic diseases, while gene mapping has been performed in over 100 monogenetic and polygenctic skin diseases. Researches in genodermatoses has rapidly advanced in China in recent ten years. The causative genes involved in multiple familial trichoepithelioma and primary erythermalgia have been found. Two independent genome-wide scans with DNA markers have been performed to detect genetic linkage related to psoriasis and vitiligo. In this review article, we summarize these most recent findings.