A Tolun

B Gülek

E Erken

F Yıldız

HT Özer

Ç Köroğlu

Pediatric Rheumatology

PubMed

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MEETING ABSTRACT Open Access
P03-020 - A novel 15-HPGD mutation in
pachydermoperiostosis
E Erken1*, Ç Köroğlu2, F Yıldız1, HT Özer1, B Gülek3, A Tolun2
From 7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)
Lausanne, Switerland. 22-26 May 2013
Introduction
Autosomal recessive primary hypertrophic osteoathropa-
thy (PHO), also known as pachydermoperiostosis (PDP), is
a rare genetic disease characterized by clubbing of the fin-
gers, arthritis, periostosis and pachydermia and results
from mutations in 15-hydroxyprostaglandin dehydrogen-
ase (HPGD). Recessive mutations in 15-hydroxyprosta-
glandin dehydrogenase in PHO subjects. has been
identified since 2008. Both homozygous and compound
heterozygous mutations in HPGD have been reported.
Homozygous patients had increased sustained prostaglan-
din E2 levels and prominent clinical and biochemical
PHO.
Objectives
To perform clinical investigations, to attempt medical
treatment, and to find the HPGD mutation, the gene
responsible for the disease, in a 22-year old Turkish male
and his 23-year old sister afflicted with primary hyper-
trophic osteoarthropathy as well 14 members of their
family.
Methods
In combination with NSAIDs and colchicine, sulfasala-
zine was commenced to both of them, and methotrexate
was added to the treatment regimen of the female patient
at the end of the first year. All seven exons of gene
HPGD including 5’ and 3’ UTRs were analyzed by direct
sequencing. After the identification of the mutation, a
primer pair was designed for the PCR amplification of a
152 bp-region harbouring the mutation site. Mutational
analysis was repeated via high-resolution melting curve
analysis performed on LightCycler 480 system, along
with samples from 136 control individuals.
Results
A homozygous 2-bp deletion (c.310_311delCT or
p.L104AfsX3) was identified. Eight relatives carrying the
mutation in the heterozygous state were examined and
none was found affected. The patients were found typical
PHO. Ultrasonographic examination of the joints revealed
synovitis and inflammation by B mode and power doppler
ultrasonography. One of the patients had emphysema in
addition to other findings reported as associated with
PHO. Joint symptoms responded to Sulfasalazine treat-
ment in both patients. However, after addition of metho-
trexate, the female patient had better remission.
Conclusion
Novel p.L104AfsX3 in HPGD underlies PHO in the family.
Emphysema is an additional clinical finding associated
with PHO. Sulfasalazin as well as methotrexate can be
used for the treatment of joint symptoms.
Competing interests
None Declared.
Authors’ details
1Rheumatology-Immunology, Cukurova University Faculty of Medicine,
Adana, Turkey. 2Molecular Biology and Genetics, Boğaziçi University, Istanbul,
Turkey. 3Radiology, Adana Numune Hospital, Adana, Turkey.
Published: 8 November 2013
doi:10.1186/1546-0096-11-S1-A218
Cite this article as: Erken et al.: P03-020 - A novel 15-HPGD mutation in
pachydermoperiostosis. Pediatric Rheumatology 2013 11(Suppl 1):A218.
1Rheumatology-Immunology, Cukurova University Faculty of Medicine,
Adana, Turkey
Full list of author information is available at the end of the article
Erken et al. Pediatric Rheumatology 2013, 11(Suppl 1):A218
http://www.ped-rheum.com/content/11/S1/A218
© 2013 Erken 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.


P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis

http://dx.doi.org/10.1186/1546-0096-11-S1-A218

P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis

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