[CIS PIDD] [cis-pidd] AR-CGD and Hidradenitis

[CIS-PIDD]

Joe,

Tricky to treat then!!

More of a theoretic thought than anything practical: of course her HS disease may "solely" be caused by CGD, but being lean and non-smoking, does she have any family history of HS?

Some monogenic HS cases are caused by LOF gamma-secretase complex gene mutations possibly affecting Notch-signaling (Dermatol Clin. 2016 Jan;34(1):23-8. doi: 10.1016/j.det.2015.07.002). There are other suspected loci, CNVs and unknown genes as well. g-secretase mut carriers tend to have early, prepubertal onset.

Lesionally and perilesionally, there are increased Th17 and gamma-interferon secreting CD4 cells a.o.t. Follicles secrete increased amounts of IL-1b a.o.t. (
PMID
 27206704), so maybe there will be more trials of biologicals and topical targeted immunomodulation in the future?

Not that this helps now...

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)
[X]

Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 18.8.2016 kello 2.35:

Colleagues:

Thank you all for the great suggestions.

Thalidomide is a good idea.  The problem is that this young lady refused Accutane (isotretinoin) because she would have to take birth control pills and have regular lab monitoring done.  However, I will mention this to the primary MD.

As noted, anti-TNF treatments have been associated with serious complications in CGD patients.

I discussed with her the potential for transplant to cure her disease.  She is not interested.  She notes that she has not had a single serious infection since her diagnosis and starting prophylaxis, and is unwilling to run the risk.  She may have a mutation that allows some oxidase expression.  I am waiting for results of our in-house DHR.

Injectable or low-dose systemic steroids would address the hyperinflammatory state in CGD.  Either may be the safest place to start.

She does not smoke; she is Asian-American; and lean.  So, except for CGD she has none of the predisposing factors for hidradenitis..

Again, thank you for your assistance.

Joe Church
Children's Hospital Los Angeles








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