[PAGID] Seeking help with what appears to be an autosomal dominant inflammatory disorder

[John Ziegler]

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Dear Colleagues

We have a 15 month old girl who has two episodes of osteomyelitis, effecting
humerus and radius/ulna.  Both episodes appeared to start in the adjacent
joint (elbow and wrist) where there was a purulent effusion, before
spreading to involve bone, were refractory to antibiotics, no organisms were
isolated despite multiple attempts, histopathology showed only a minor
plasma cell infiltrate on later samples and immunodeficiency screen was
negative.  Inflammatory markers (ESR/ CRP) were moderately elevated during
the course of the disease.  She seemed to improve markedly with NSAIDs.  

Her mother also suffered 5-6 documented episodes of osteomyelitis (often at
a site near to a joint) with moderately raised inflammatory markers, and
multiple episodes of what was thought to be septic arthritis with pus in the
joint, but again with no organisms identified and negative immunodeficiency
screen. She had occasional other infections including one buttock abscess,
an episode of pneumonia and several UTI's.  She has gone on to have a
seronegative arthritis in adult life with difficult scarring acne of onset
in mid 30's.  

We wondered whether this is on the CRMO/SAPHO spectrum, but could find
little evidence for the existence of such an early onset autosomal dominant
phenomenon.         

A/Prof. John B. Ziegler and Dr Paul Gray
School of Women's & Children's Health, University of NSW
C/o Department of Immunology & Infectious Diseases
Sydney Children's Hospital
High St., Randwick NSW 2031
Australia
T: (02) 93821515
F: + 61 + 2 93821580
E: j.ziegler at unsw.edu.au