loading...| Preferred Name |
Pachydermoperiostosis |
|
| Synonyms |
PDP Touraine-Solente-Gole syndrome |
|
| Definitions |
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, <i>cutis verticis gyrata</i>, 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 <i>forme frusta</i> with prominent pachydermia and minimal-to-absent skeletal changes. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2796 |
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| alternative_term |
PDP Touraine-Solente-Gole syndrome |
|
| definition |
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. |
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| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2796 |
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| has_age_of_onset |
Childhood |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
ICD-11:FB86.10 OMIM:259100 MedDRA:10051686 OMIM:614441 ICD-10:M89.4 UMLS:C0029411 OMIM:167100 |
|
| label |
Pachydermoperiostosis |
|
| notation |
ORPHA:2796 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_79381 |
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| prefixIRI |
ORDO:Orphanet_2796 |
|
| prefLabel |
Pachydermoperiostosis |
|
| present_in |
Worldwide AND has_cases/families_value : 204.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_79381 |
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| subClassOf |