[CIS PIDD] [cis-pidd] VS: Patient with NEMO rash and joint inflammation

[Seppänen Mikko]

Dear all, Charlotte

A challenging case You have there! 

I would certainly include PCR/NGS search for viruses (see Kate's previous messages about rubella in granulomatous skin lesions in PIDDs with T def, she even might want a sample?) and considering his travel history, also search for fungi in a similar way. I would love to know the reason exactly.

Pyoderma gangrenosum is an option, like mentioned (again seen occasionally in T cell immunodysregulatory and deficiency states), biopsy report? Any hemangioma formation, Rochalimea or like?

I would also specifically search for (even both) rat bite fever agents (other one of them is common in NY sewer rats, like 18? unknown species to science, a recent fascinating report). Often people surprisingly have not awaken to mouse/rat bites, which one usually gets during sleep.. 

And would search also specifically for Rickettsiae, Anaplasmas. I believe at least for these two there are targeted multiplex PCRs available, from local experts in USA or from Didier Raoult, Marseille. Other arthropod- or rodent-transmitted species remain a possibilty. Bartonella? Tularemia can cause skin granulomas, blisters, "everything" dermatologic. 

And the lab should be notified to obtain optimal culture conditions and lab safety.
In our experience and hands, in these rarer pathogens the "universal" bacterial 16S PCR is not always the best in sensitivity, thus would take targeted tests as well, from tissue samples.

Respectfully, hope this helps,

Mikko Seppänen, Finland

________________________________________
Lähettäjä: Cunningham-Rundles, Charlotte [charlotte.cunningham-rundles at mssm.edu]
Lähetetty: 22. lokakuuta 2014 23:07
Vastaanottaja: CIS-PIDD
Kopio: Welch, Kate; Gulko, Percio
Aihe: [cis-pidd] Patient with NEMO rash and  joint inflammation

Hello all,


We are hoping to get some insight and suggestions on an interesting but confusing case of a patient with NEMO syndrome and now a rash and arthritis.



Patient is a 28yo man diagnosed with immunodeficiency at a young age and with NEMO at age 12y at the NIH.  His course has been complicated by Neiserria meningitis and disseminated MAC infection but overall he has been doing well.  We switched from IVIGto Hizentra earlier this year, and his IgG levels are good.



Roughly three months ago (after a camping trip to Lake Placid) he developed skin lesions which were not painful or itchy but had  a crusted, granulomatous appearance with a few odd satellites.   He developed about 5 in total (3 on his arms and 2 on his legs) and they are slow to heal.   Does not recall being bitten; no accompanying fever.  Saw a local dermatologist who put him on a 2-3 week course of doxycycline but no biopsy.



In addition, for the past 2 months, he has noted a migrating polyarticularl arthritis, predominantly involving his left MCPs, left elbow and left great toe.  Acutely worsened this week and increased swelling to the point of difficulty opening his hand.



Labs notable for CRP only slightly elevated at 5.9.



We have sent him to derm and rheum this week.  Derm biopsy so far with granulomatous dermatitis; and fluid aspiration with no crystals.  All cultures pending.



We are concerned for a reactive arthritis.  Possible mycobacterial infection.  Possible Lyme, although he was treated and cannot adequately test him, given Ig replacement.


He is on daily azithromycin/moxifloxacin/ethambutol for the MAC history.


We are considering adding back doxycycline and would like to avoid immunosuppression.


Any thoughts  and advice  on workup and treatment are welcome.



Charlotte





Charlotte Cunningham-Rundles, MD, PhD

Departments of Medicine and Pediatrics

The David S Gottesman Professor

The Immunology Institute

Mount Sinai School of Medicine

1425 Madison Avenue

New York, NY 10029

Phone: 212 659 9268

Fax: 212 987 5593

Email: Charlotte.Cunningham-Rundles at mssm.edu


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