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Autoinflammatory necrotizing fasciitis #271

Open MikkoS62 opened 1 month ago

MikkoS62 commented 1 month ago

Dear Orphanet, A new ORPHA is needed. For an entity that is life threatening and does not respond to conventional medication.

There is a novel form of necrotizing fasciitis, which does not require infection. We have coined the term "autoinflammatory necrotizing fasciitis" (ANF). It seems to be most commonly seen in inborn errors of immunity, especially in NFKB1 mutations, but may be seen in type I interferonopathies like STING1-associated and USP18 deficiency (see PMID: 31866997;PMID: 31940699) .

The same patients may exhibit less invasive, more superficial necrotizing dermatosis as well (often years before fasciitis, harbinger of troubles to come), clinically then diagnosed as pyoderma gangrenosum. This could be coined "autoinflammatory necrotizing dermatosis" (AND).

Thus, for both AND and ANF, as subtypes, there should be at least NFKB1 and interfeonopahy-associated subtypes.

Original finding: PMID: 28115215. Further: PMID: 38593810; PMID: 36892687; PMID: 31141111; PMID: 36356849; PMID: 36203612; PMID: 32278790, PMID: 33486103, PMID: 38951460; and others (including an In Press, rather systematic review + case report https://www.jaci-inpractice.org/article/S2213-2198(24)00647-0/fulltext = https://doi.org/10.1016/j.jaip.2024.06.024 As you can see, both NLRP3 inflammasome- and type I interferon-mediated inflammation and cell death are involved in pathogenesis.

As for how these phenotypes should eventually be named as ORPHA entities, I trust Orphanet will come up with nice names. Yours respectfully, Mikko Seppänen

Mickael-Orphanet commented 4 weeks ago

Dear @Orphanet-EmilieGaillard ,

Can you take a look at this issue ?

Best, Mickael