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Pachydermoperiostosis
3 OMIM references -
2 associated genes
9 connected diseases
44 signs/symptoms
Disease Type of connection
Cranio-osteoarthropathy
Isolated congenital digital clubbing
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- PDP
- Touraine-Solente-Gole syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
HPGD P15428601688
SLCO2A1 Q92959601460
Very frequent
- Autosomal dominant inheritance
- Bone pain
- Bone tumefaction / swelling
- Cortical anomaly / thick bone cortical layer
- Epiphyseal anomaly
- Hyperhidrosis / increased sweating
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Seborrhea / hyperseborrhea / seborrheic dermatitis
- Thick skin / pachydermia / orange skin

Frequent
- Abnormal fingernails
- Acne / acnea
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Coarse face
- Cutaneous edema
- Decreased body hair / axillar / pubic hairlessness
- Hydrarthrosis / articular / joint effusion
- Osteolysis / osteoclasia / bone destruction / erosions
- Ptosis
- Restricted joint mobility / joint stiffness / ankylosis
- Terminal broadening / clubbing of toes
- Thick scalp / scalp dysplasia
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Abnormal implantation of hair
- Acromegaly
- Acute palsy
- Anaemia
- Bone marrow anomalies
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Follicular / erythematous / edematous papules / milium
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Genu varum
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hot flushes / sensation of cold
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Malabsorption / chronic diarrhea / steatorrhea
- Osteonecrosis / bone infarction
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Palmoplantar hyperkeratosis / keratoderma
- Scoliosis
- Skin tumors / lumps / epidermal cysts
- Small hand / acromicria
- Splenomegaly