A Jeibmann

E Lausch

G Ganser

S Mrusek

Pediatric Rheumatology

PubMed

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PReS-FINAL-2275: Improvement of calcinosis cutis with intravenous pamidronate in a 2-year-old girl with progressive widespread skin calcification of unknown origin

POSTER PRESENTATION Open Access
PReS-FINAL-2275: Improvement of calcinosis cutis
with intravenous pamidronate in a 2-year-old girl
with progressive widespread skin calcification of
unknown origin
S Mrusek1*, A Jeibmann2, E Lausch3, G Ganser1
From 20th Pediatric Rheumatology European Society (PReS) Congress
Ljubljana, Slovenia. 25-29 September 2013
Introduction
Pathologic calcification occurs in up to 40% of children
with juvenile dermatomyositis and can develop within
several months even in successfully treated patients.
Other differential diagnoses of calcinosis cutis in chil-
dren are rare. There is no generally accepted standard
treatment of calcinosis. We report on a 2-year-old pre-
viously healthy girl, the 2nd child of non-consanguineous
healthy parents from Kosovo, who presented with a 7-
month history of progressive calcinosis cutis primarily
affecting both legs. The girl had no other signs or symp-
toms of juvenile dermatomyositis or other autoimmune
diseases.
Objectives
An extensive diagnostic work-up was carried out to find
an underlying cause and an effective treatment.
Methods
Laboratory studies, immunology tests, X-rays, magnetic
resonance imaging and skin and muscle biopsy were
done.
Results
Blood tests showed mild leukocytosis (14.0 × 109/L), lym-
phocytosis (9.1 × 109/L) and thrombocytosis (632 × 109/
L), hypergammaglobulinemia (1786 mg/dl) and elevated
S100A8/S100A9 protein levels (2230 ng/ml). Significantly
elevated plasma osteopontin levels (>30-fold) were noted.
Creatinkinase, aldolase, C-reactive protein, erythrocyte
sedimentation rate, liver function tests, electrolytes, vita-
min D and parathormone levels were all normal. ANA,
ENA, rheumatoid factor, myositis-specific and associated
antibodies (anti-Mi-2, anti-Jo-1, anti-Pm/Scl, anti-SRP54),
complement C3 and C4 were all negative. X-rays of her
legs showed extensive calcinosis. On magnetic resonance
imaging, there was contrast enhancement of thickened
muscle fascia but no signs of dermatomyositis. Skin and
muscle biopsy revealed calcification (without ossification!)
with foreign body reaction in subcutaneous fatty tissue
and inflammatory infiltrates (lymphocytes and macro-
phages), but no signs of eosinophilic fasciitis, neurogenic
or myopathic damage. We suspected an autoimmune dis-
ease with fasciitis (primary or secondary?) and calcinosis
cutis and started immunosuppressive therapy with pre-
dnisone and azathioprine. After calcinosis progressed
(clinically, on x-rays, ultrasound and follow-up MRI),
methotrexate was added and pamidronate infusions were
started. Three months later, improvement of calcinosis
and local tissue inflammation as well as no development
of new calcium deposits were observed. Two further
cycles of pamidronate every three to four months are
planned and a slow tapering of the immunosuppressive
therapy.
Conclusion
The underlying cause of the disease in our patient
remains unclear. The degree and clinical distribution of
the calcinosis, the young age of our patient as well as
the very high levels of osteopontin, a major regulatory
protein of calcification, suggest an autoimmune disease.
The patient’s differential diagnosis includes an unknown
genetic disease of calcium metabolism - we are still
1Department of Pediatric Rheumatology, Northwest German Center of
Rheumatology, St. Josef Stift Sendenhorst, Sendenhorst, Germany
Full list of author information is available at the end of the article
Mrusek et al. Pediatric Rheumatology 2013, 11(Suppl 2):P265
http://www.ped-rheum.com/content/11/S2/P265
© 2013 Mrusek et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in
any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://
creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
awaiting the results of a whole exome analysis of the
patient and her family members. Immunosuppressive
therapy did not stop progression of calcinosis and only
after starting pamidronate rapid regression of calcified
lesions was noted. Whether this therapy has any long-
term beneficial effect and whether the immunosuppres-
sive therapy can be fully tapered remains to be seen.
Disclosure of interest
None declared.
Authors’ details
1Department of Pediatric Rheumatology, Northwest German Center of
Rheumatology, St. Josef Stift Sendenhorst, Sendenhorst, Germany. 2Institute
of Neuropathology, University Hospital Münster, Münster, Germany.
3Pediatric Genetics, University Hospital Freiburg, Freiburg, Germany.
Published: 5 December 2013
doi:10.1186/1546-0096-11-S2-P265
Cite this article as: Mrusek et al.: PReS-FINAL-2275: Improvement of
calcinosis cutis with intravenous pamidronate in a 2-year-old girl with
progressive widespread skin calcification of unknown origin. Pediatric
Rheumatology 2013 11(Suppl 2):P265.
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Mrusek et al. Pediatric Rheumatology 2013, 11(Suppl 2):P265
http://www.ped-rheum.com/content/11/S2/P265
Page 2 of 2


http://dx.doi.org/10.1186/1546-0096-11-S2-P265

PReS-FINAL-2275: Improvement of calcinosis cutis with intravenous pamidronate in a 2-year-old girl with progressive widespread skin calcification of unknown origin

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