[CIS-PAGID] Weber Christian Disease

[Verbsky, James]

I was asked to present this case from a colleague

This is a 37 yo man with a 35 year history of panniculitis.  Lesions start with an painful erythematous nodule, sometimes ulcerating.  Evolve over days and resolves with atrophy/discoloration.  Recently has had multiple bony infarcts particulary in his foot..and resulting in a calcaneal fracture (essentially broke in half).  Radiology states that the fractures are occurring along lines of multiple bony infarcts.  This could be steroid related as prednisone is the only drug that helps the lesions (and big doses..>20mg daily).

Interesting family history..evidently pictures of a grandfather wearing multiple bandages..no other information.  Father has AVN of the hip and hip replacement as a teenager.

Labs unrevealing..has had elevated inflammatory markers..but mostly CRP/ESR were normal. All other markers normal except for a mildly elevated RF

Multiple biopsies..early on the lesions show panniculitis predominantly neutrophilic.  Later in evolution there are T and B cells (in one instance lots of B cells).  No evidence of infections.

Has tried colchicine, dapsone, Imuran, CSA, Illaris, Remicade, abatacept..only Illaris helped a little but unable to get off steroids.  Planning on trying anakinra (better than Illaris since it blocks both alpha and beta signaling??)..if fails are thinking of actemra or rituxan.

Questions

1)      What is Weber Christian?

2)      Any therapies that weren't tried that people can think of?

3)      Anyone seen hereditary Weber Christian?  Grandfather and father stories are interesting but data limited.

4)      Any PIDs or other genetic tests that would be helpful?  Was thinking of fever syndromes but really  unusual presentation.  Alaine Fisher presented cases of Syk deficiency with panniculitis, but these cases had infectious history and low CD8 counts which he does not have.

Thanks for your thoughts

james

James W. Verbsky MD/PhD
Associate Professor of Pediatric,s and Medical Microbiology and Genetics
Medical College of Wisconsin
Milwaukee, WI  53211
jverbsky at mcw.edu<mailto:jverbsky at mcw.edu>
414-266-6701 (phone)
414-266-6695 (fax)

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