Pachydermoperiostosis
Synonyms: PDP · Touraine-Solente-Gole syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pachydermoperiostosis | PDP · Touraine-Solente-Gole syndrome |
| fr | Pachydermopériostose | PDP · Syndrome de Touraine-Solente-Gole |
| de | Pachydermoperiostose | PDP · Touraine-Solente-Golé-Syndrom |
| es | Paquidermoperiostosis | PDP · Síndrome de Touraine-Solente-Gole |
| it | Pachidermoperiostosi | Osteoartropatia ipertrofica primitiva o idiopatica · PDP · Sindrome di Touraine-Solente-Gole |
| nl | Pachydermoperiostose | PDP · Touraine-Solente-Golesyndroom |
| pt | Paqui-dermoperiostose | Osteoartropatia hipertrófica primária ou idiopática |
| pl | Zespół Touraine'a, Solente i Gole’a | PDP · Zespół Touraine'a, Solente i Gole'a |
| cs | Pachydermoperiostosis | PDP · Touraineův-Solenteho-Goleův syndrom · Touraine-Solente-Goleův syndrom |
| uk | Пахідермоперіостоз | PDP · Синдром Турена-Соленте-Голе |
| zh | 厚皮性骨膜病 | Touraine-Solente-Gole 综合征 |
| tr | Pakidermoperiostoz | PDP · Touraine-Solente-Gole sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167100 | BTNT | validated | |
| OMIM | 259100 | E | validated | |
| OMIM | 614441 | BTNT | validated | |
| ICD-10 | M89.4 | NTBT | inclusion | validated |
| ICD-11 | FB86.10 | NTBT | index | validated |
| GARD | 7299 | E | validated | |
| MedDRA | 10051686 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:248095Primary hypertrophic osteoarthropathy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:964Acromegaly-cutis verticis gyrata-corneal leukoma syndrome moved to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLCO2A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10955 | ENSG00000174640 | 601460 | 3q22.1-q22.2 | solute carrier organic anion transporter family member 2A1 | 22197487[PMID]_22331663[PMID] |
| HPGD | Disease-causing germline mutation(s) in | Assessed | HGNC:5154 | ENSG00000164120 | 601688 | 4q34.1 | 15-hydroxyprostaglandin dehydrogenase | 18500342[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 204 cases | Worldwide | Case(s) | Validated | 16283874[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
49 annotations · validated 2026-02-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002653 | Bone pain | |
| HP:0001217 | Clubbing | |
| HP:0000975 | Hyperhidrosis | |
| HP:0002754 | Osteomyelitis | |
| HP:0001051 | Seborrheic dermatitis | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0011362 | Abnormal hair quantity | |
| HP:0001061 | Acne | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0100760 | Clubbing of toes | |
| HP:0000280 | Coarse facial features | |
| HP:0010541 | Cutis gyrata of scalp | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0002014 | Diarrhea | |
| HP:0000969 | Edema | |
| HP:0002705 | High, narrow palate | |
| HP:0001386 | Joint swelling | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000527 | Long eyelashes | |
| HP:0002018 | Nausea | |
| HP:0002797 | Osteolysis | |
| HP:0030314 | Periostosis | |
| HP:0000508 | Ptosis | |
| Occasional (29-5%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0001903 | Anemia | |
| HP:0010885 | Avascular necrosis | |
| HP:0100021 | Cerebral palsy | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002970 | Genu varum | |
| HP:0000771 | Gynecomastia | |
| HP:0002240 | Hepatomegaly | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0002024 | Malabsorption | |
| HP:0011974 | Myelofibrosis | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000939 | Osteoporosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0004398 | Peptic ulcer | |
| HP:0002650 | Scoliosis | |
| HP:0200055 | Small hand | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 39878145[PMID]_37705574[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2796
- This record as JSON: /data/d/2796.json