A novel homozygous mutation in theSLCO2A1gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient

2015 ◽  
Vol 54 (6) ◽  
pp. e233-e235 ◽  
Author(s):  
Nedhal Ayoub ◽  
Sultan Al-Khenaizan ◽  
Haitham Sonbol ◽  
Rakan Albreakan ◽  
Mohammed AlSufyani ◽  
...  
Keyword(s):  
Homozygous Mutation ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy

scholarly journals Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

2019 ◽  
Vol 158 (3) ◽  
pp. 126-132
Author(s):  
Murat Torgutalp ◽  
Ceren D. Durmaz ◽  
Halil G. Karabulut ◽  
Wenke Seifert ◽  
Denise Horn ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Periosteal Reaction ◽  
Homozygous Mutation ◽  
Hypertrophic Osteoarthropathy ◽  
Imaging Findings ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing ◽  
Autosomal Recessive Condition ◽  
Homozygous Mutations ◽  
Hands And Feet

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.

Primary hypertrophic osteoarthropathy with bilateral destructive hip arthritis

2006 ◽  
Vol 73 (4) ◽  
pp. 477-479 ◽  
Author(s):  
Mohamed Younes ◽  
Mongi Touzi ◽  
Ismail Béjia ◽  
Saoussen Zrour-Hassen ◽  
Najeh Amara ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Hip Arthritis

scholarly journals Erratum: Corrigendum: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

2008 ◽  
Vol 40 (7) ◽  
pp. 927-927
Author(s):  
Sandeep Uppal ◽  
Christine P Diggle ◽  
Ian M Carr ◽  
Colin W G Fishwick ◽  
Mushtaq Ahmed ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy

Primary hypertrophic osteoarthropathy: Another heritable disorder associated with patent ductus arteriosus

1993 ◽  
Vol 14 (3) ◽  
pp. 181-182 ◽  
Author(s):  
Manuel Mart�nez-Lav�n ◽  
Carlos Pineda ◽  
Carmen Navarro ◽  
Alfonso Buend�a ◽  
Carlos Zabal
Keyword(s):  
Patent Ductus Arteriosus ◽  
Ductus Arteriosus ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Heritable Disorder ◽  
Patent Ductus

Primary Hypertrophic Osteoarthropathy

2009 ◽  
pp. 1721-1721
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy

scholarly journals Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations

2011 ◽  
Vol 20 (6) ◽  
pp. 531-533 ◽  
Author(s):  
Carsten Bergmann ◽  
Marion Wobser ◽  
Henner Morbach ◽  
Albrecht Falkenbach ◽  
Dietrich Wittenhagen ◽  
...  
Keyword(s):  
Hypertrophic Osteoarthropathy ◽  
Loss Of Function ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing
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