dc.contributor.author
Torgutalp, Murat
dc.contributor.author
Durmaz, Ceren D.
dc.contributor.author
Karabulut, Halil G.
dc.contributor.author
Seifert, Wenke
dc.contributor.author
Horn, Denise
dc.contributor.author
Akkaya, Zehra
dc.contributor.author
Turgay, Murat
dc.date.accessioned
2020-10-19T10:18:28Z
dc.date.available
2020-10-19T10:18:28Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/28551
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-28300
dc.description.abstract
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in the HPGD gene in chromosome 4q34.1 or the SLCO2A1 gene in 3q22.1q22.2. Here, we report on a 20-year-old male with enlarged and swollen joints with arthralgia, palmoplantar hyperhidrosis, and large hands and feet with marked digital clubbing. We also present radiographic, MRI, and ultrasonographic features of the case. These clinical and imaging findings were compatible with the diagnosis of PHO, and a novel homozygous mutation, c.576C>G, p.Ile192Met, was found in SLCO2A1.
en
dc.subject
Pachydermoperiostosis
en
dc.subject
Primary hypertrophic osteoarthropathy
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.doi
10.1159/000500988
dcterms.bibliographicCitation.journaltitle
Cytogenetic and Genome Research
dcterms.bibliographicCitation.number
3
dcterms.bibliographicCitation.originalpublishername
Karger
dcterms.bibliographicCitation.pagestart
126
dcterms.bibliographicCitation.pageend
132
dcterms.bibliographicCitation.volume
158
dcterms.rightsHolder.note
Copyright applies in this work.
dcterms.rightsHolder.url
http://rightsstatements.org/vocab/InC/1.0/
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.note.author
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
de
refubium.note.author
This publication is shared with permission of the rights owner and made freely accessible through a DFG (German Research Foundation) funded license at either an alliance or national level.
en
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
31203270
dcterms.isPartOf.issn
1424-8581
dcterms.isPartOf.eissn
1424-859X