{"orpha":2796,"name":"Pachydermoperiostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PDP","Touraine-Solente-Gole syndrome"],"definition":"Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, 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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2796/","orphanet_url":"https://www.orpha.net/en/disease/detail/2796","names":{"fr":{"name":"Pachydermopériostose","synonyms":["PDP","Syndrome de Touraine-Solente-Gole"],"definition":"La pachydermopériostose (PDP) est une forme d'ostéo-arthropathie hypertrophique primitive , une maladie osseuse héréditaire rare, et elle est caractérisée par un hippocratisme digital, une pachydermie et une néoformation osseuse sous-périostée associée à des douleurs, une polyarthrite, un <i>cutis verticis gyrata</i>, une séborrhée et une hyperhidrose. Trois formes de PDP ont été décrites : une forme complète avec pachydermie et périostose, une forme incomplète avec anomalies osseuses sans pachydermie et une forme fruste, avec pachydermie importante et peu ou pas d'anomalies osseuses."},"de":{"name":"Pachydermoperiostose","synonyms":["PDP","Touraine-Solente-Golé-Syndrom"],"definition":"Die Pachydermoperiostose (PDP) ist eine Form von primärer hypertrophischer Osteoarthropathie (s. dort). Diese seltene hereditäre Krankheit ist gekennzeichnet durch Trommelschlegelfinger, Pachydermie und subperiostale Knochenneubildung. Symptome sind Schmerzen, Polyarthritis, Cutis verticis gyrata, Seborrhoe und Hyperhidrose. Drei Unterformen wurden beschrieben: Eine vollständige Form mit Pachydermie und Periostitis; eine unvollständige Form mit Hinweisen auf Knochenanomalien, aber ohne Pachydermie; und eine Forme fruste mit erheblicher Pachydermie, aber nur minimalen bis fehlenden Skelettveränderungen (sh. diese Termini)."},"es":{"name":"Paquidermoperiostosis","synonyms":["PDP","Síndrome de Touraine-Solente-Gole"],"definition":"La paquidermoperiostosis (PDP) es una forma de osteoartropatía hipertrófica primaria (ver término), una enfermedad ósea hereditaria, y se caracteriza por: hipocratismo digital, paquidermia y neoformación ósea subperióstica asociada a dolor, poliartritis, <i>cutis verticis gyrata</i>, seborrea e hiperhidrosis. Se han descrito tres formas: una forma completa con paquidermia y periostitis, una forma incompleta con evidencia de anomalías óseas pero sin paquidermia, y una <i>forme frusta</i>, con paquidermia importante y pocos o ningún cambio esquelético (ver términos)."},"it":{"name":"Pachidermoperiostosi","synonyms":["Osteoartropatia ipertrofica primitiva o idiopatica","PDP","Sindrome di Touraine-Solente-Gole"]},"nl":{"name":"Pachydermoperiostose","synonyms":["PDP","Touraine-Solente-Golesyndroom"],"definition":"Pachydermoperiostose (PDP) is een vorm van primaire hypertrofische osteoartropathie (zie deze term), een zeldzame erfelijke stoornis, en wordt gekenmerkt door trommelstokvingers, pachydermie en subperiosteale nieuwe botvorming geassocieerd met pijn, polyartritis, cutis verticis gyrata, seborroe en hyperhidrose. Er zijn drie vormen beschreven: een complete vorm met pachydermie en periostitis, een incomplete vorm met indicatie van botafwijkingen maar zonder pachydermie, en een forme fruste met prominente pachydermie en minimale tot afwezige skeletale veranderingen (zie deze termen)."},"pt":{"name":"Paqui-dermoperiostose","synonyms":["Osteoartropatia hipertrófica primária ou idiopática"],"definition":"A paquidermoperiostose (PDP) é uma forma de osteoartropatia hipertrófica primária (ver este termo), uma doença hereditária rara, e é caracterizada por baqueteamento digital, paquidermia e formação subperióssea de novo osso associada a dor, poliartrite, <i> cutis verticis gyrata </ i >, seborreia e hiperidrose. Foram descritas três formas: uma forma completa com paquidermia e periostite, uma forma incompleta com evidência de anomalias ósseas mas sem paquidermia, e uma <i> forme fruste </ i> com paquidermia proeminente e alterações esqueléticas mínimas a ausentes (ver estes termos)."},"pl":{"name":"Zespół Touraine'a, Solente i Gole’a","synonyms":["PDP","Zespół Touraine'a, Solente i Gole'a"]},"cs":{"name":"Pachydermoperiostosis","synonyms":["PDP","Touraineův-Solenteho-Goleův syndrom","Touraine-Solente-Goleův syndrom"]},"uk":{"name":"Пахідермоперіостоз","synonyms":["PDP","Синдром Турена-Соленте-Голе"],"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, <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."},"zh":{"name":"厚皮性骨膜病","synonyms":["Touraine-Solente-Gole 综合征"]},"tr":{"name":"Pakidermoperiostoz","synonyms":["PDP","Touraine-Solente-Gole sendromu"]}},"xrefs":[{"source":"OMIM","code":"167100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"259100","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614441","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"FB86.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2108615601"},{"source":"GARD","code":"7299","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051686","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":964,"name":"Acromegaly-cutis verticis gyrata-corneal leukoma syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":248095,"name":"Primary hypertrophic osteoarthropathy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SLCO2A1","name":"solute carrier organic anion transporter family member 2A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22197487[PMID]_22331663[PMID]","hgnc":"10955","ensembl":"ENSG00000174640","omim":"601460","loci":["3q22.1-q22.2"]},{"symbol":"HPGD","name":"15-hydroxyprostaglandin dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18500342[PMID]","hgnc":"5154","ensembl":"ENSG00000164120","omim":"601688","loci":["4q34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":204.0,"area":"Worldwide","status":"Validated","source":"16283874[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-02-04","source":"39878145[PMID]_37705574[PMID]","terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001051","label":"Seborrheic dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010541","label":"Cutis gyrata of scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030314","label":"Periostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal 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