Pachydermoperiostosis

Description

Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

Clinical Features

Top most frequent phenotypes and symptoms related to Pachydermoperiostosis

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly
  • Osteoporosis
  • Hyperhidrosis
  • Arthralgia
  • Coarse facial features

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Pachydermoperiostosis Is also known as touraine-solente-gole syndrome, pdp.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Pachydermoperiostosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypertrophic osteoarthropathy, primary 2 AR (sequence analysis of SLCO2A1 gene).

By CGC Genetics (Portugal).

SLCO2A1
Specificity
100 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TGFB1, TNFRSF11B, TYROBP, SOST, ANKH, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1
Specificity
16 %
Genes
100 %
Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TGFB1, TNFRSF11B, TYROBP, SOST, ANKH, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1
Specificity
16 %
Genes
100 %
Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TGFB1, TNFRSF11B, TYROBP, SOST, ANKH, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1
Specificity
16 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP, CA2, SOST, SNX10, ANKH, CLCN7, OSTM1, FAM20C, FERMT3, CTSK, AMER1, LEMD3, PLEKHM1 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP, CA2, SOST, SNX10, ANKH, CLCN7, OSTM1, FAM20C, FERMT3, CTSK, AMER1, LEMD3, PLEKHM1 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLCO2A1, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP, CA2, SOST, SNX10, ANKH, CLCN7, OSTM1, FAM20C, FERMT3, CTSK, AMER1, LEMD3, PLEKHM1 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %

You can get up to 17 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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