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

Fri Aug 19 05:54:28 EDT 2016

Would love to hear of any real life experiences from list members??

Expression of the IL-23/Th17 pathway in lesions of hidradenitis suppurativa.
Schlapbach C, et al. J Am Acad Dermatol. 2011.
Authors
Schlapbach C<http://www.ncbi.nlm.nih.gov/m/pubmed/?term=Schlapbach%20C%5BAuthor%5D&sort=ac&from=/21641076/ac>1, Hänni T<http://www.ncbi.nlm.nih.gov/m/pubmed/?term=H%C3%A4nni%20T%5BAuthor%5D&sort=ac&from=/21641076/ac>, Yawalkar N<http://www.ncbi.nlm.nih.gov/m/pubmed/?term=Yawalkar%20N%5BAuthor%5D&sort=ac&from=/21641076/ac>, Hunger RE<http://www.ncbi.nlm.nih.gov/m/pubmed/?term=Hunger%20RE%5BAuthor%5D&sort=ac&from=/21641076/ac>.
Author information

  *   1Department of Dermatology, Inselspital, University of Bern, Bern, Switzerland.

Citation

J Am Acad Dermatol. 2011 Oct;65(4):790-8. doi: 10.1016/j.jaad.2010.07.010.

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 19.8.2016 kello 12.22:

Hi,

What do you think of ustekinumab?

There is some experiences in the literature for HS (http://www.ncbi.nlm.nih.gov/pubmed/21605174) and it is generally considered (at least in psoriasis) safer then anti-TNF.

Interestingly a case of CGD-colitis succesfully treated with ustekinumab was recently reported ( http://link.springer.com/article/10.1007%2Fs10875-016-0318-x ).

It also (kind of) reminds me the case presented by Steven Hollande in his lecture at CIS Boston 2016 of the use of ustekinumab in LAD ( https://cis.confex.com/cis/2016/videogateway.cgi/id/593?recordingid=593 ).

Kind regards,

Boaz Palterer, MD
Resident in Allergology and Clinical Immunology
University of Florence, Italy
email boaz.palterer at gmail.com<mailto:boaz.palterer at gmail.com>

On Thu, Aug 18, 2016 at 3:43 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
Thanks, Mikko.  There is no family history of HS.  I very much appreciate the references.  JC

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>]
Sent: Wednesday, August 17, 2016 9:52 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] AR-CGD and Hidradenitis

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)
[cid:]

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

phone +358 947180201<tel:%2B358%20947180201>
GSM +358 50 4279606<tel:%2B358%2050%204279606>
fax +358 9 47174703<tel:%2B358%209%2047174703>

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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