Automated Author Profile

Karabulut, H.G.

Current S-Index

1.0

Sum of Dataset Indices for all datasets

Average Dataset Index per Dataset

0.5

Average Dataset Index per dataset

Total Datasets

2

Total datasets for this author

Average FAIR Score

13.5%

Average FAIR Score per dataset

Total Citations

1

Total citations to the author's datasets

Total Mentions

0

Total mentions of the author's datasets

S-Index Interpretation

S-Index Over Time

Cumulative Citations Over Time

Cumulative Mentions Over Time

Datasets

Supplementary Material for: Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

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.

Authors

  • Torgutalp M ;
  • Durmaz C.D ;
  • Karabulut, H.G. ;
  • Seifert, W. ;
  • Horn, D. ;
  • Akkaya, Z. ;
  • Turgay, M.
1 Citation0 Mentions13% FAIR0.7 Dataset Index
10.6084/m9.figshare.8288069January 2019

Supplementary Material for: Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

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.

Authors

  • Torgutalp M ;
  • Durmaz C.D ;
  • Karabulut, H.G. ;
  • Seifert, W. ;
  • Horn, D. ;
  • Akkaya, Z. ;
  • Turgay, M.
0 Citations0 Mentions13% FAIR0.3 Dataset Index
10.6084/m9.figshare.8288069.v1January 2019