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A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.
Features include very common findings: Excessive sweating (hyperhidrosis), Seborrheic dermatitis, Thickened skin, and Bone pain and others; and common findings: Coarse facial features, Ptosis, Edema, and Acne and others. 41 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 12 | Weak and brittle bones (osteoporosis), Joint inflammation (arthritis), Limitation of joint mobility |
Phenotype severity distribution: 7 very common features, 13 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for primary hypertrophic osteoarthropathy.
34 publications have been identified in PubMed for primary hypertrophic osteoarthropathy. Research spans Case Report / Case Series (62%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 21 | 62% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:36 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Skin | 6 | Excessive sweating (hyperhidrosis), Eczematoid dermatitis, Palmoplantar keratoderma |
Digestive system | 4 | Enlarged spleen (splenomegaly), Malabsorption, Gastrointestinal hemorrhage |
Arms and legs | 3 | Abnormal fingernail morphology, Clubbing of toes, Small hand |
Blood and immune system | 2 | Enlarged spleen (splenomegaly), Low red blood cell count (anemia) |
Head and neck | 1 | Coarse facial features |
Eyes | 1 | Ptosis |
Hormones | 1 | Elevated circulating growth hormone concentration |
Growth and development | 1 | Elevated circulating growth hormone concentration |
Lab test results | 1 | Elevated circulating growth hormone concentration |
Muscles | 1 | Limitation of joint mobility |
Brain and nerves | 1 | Cerebral palsy |
Lungs and breathing | 1 | Neoplasm of the lung |
Laboratory research
5 |
15% |
Disease patterns and progression | 5 | 15% |
Research summaries | 3 | 9% |
Krugh M (2026). [PMID: 31082012](https://pubmed.ncbi.nlm.nih.gov/31082012/). *Unknown Journal*. [Review / Meta-Analysis]
Magazin M (2026). [PMID: 41718423](https://pubmed.ncbi.nlm.nih.gov/41718423/). *Orbit*. [Review / Meta-Analysis]
Stoian M (2026). [PMID: 41682637](https://pubmed.ncbi.nlm.nih.gov/41682637/). *J Clin Med*. [Case Report / Case Series]
Cajiao K (2026). [PMID: 41865604](https://pubmed.ncbi.nlm.nih.gov/41865604/). *Clinics (Sao Paulo)*. [Basic Science / Preclinical]
Gupta P (2026). [PMID: 41522567](https://pubmed.ncbi.nlm.nih.gov/41522567/). *Indian J Hematol Blood Transfus*. [Case Report / Case Series]
Pang Q (2026). [PMID: 42078326](https://pubmed.ncbi.nlm.nih.gov/42078326/). *J Orthop Translat*. [Basic Science / Preclinical]
Staunton MK (2026). [PMID: 42011393](https://pubmed.ncbi.nlm.nih.gov/42011393/). *JAAD Case Rep*. [Case Report / Case Series]
Zehr K (2025). [PMID: 39840454](https://pubmed.ncbi.nlm.nih.gov/39840454/). *Am J Med Genet A*. [Case Report / Case Series]
Uludağ Alkaya D (2025). [PMID: 40198394](https://pubmed.ncbi.nlm.nih.gov/40198394/). *Calcif Tissue Int*. [Basic Science / Preclinical]
Honaker E (2025). [PMID: 40390809](https://pubmed.ncbi.nlm.nih.gov/40390809/). *JBMR Plus*. [Case Report / Case Series]
AI-curated news mentioning primary hypertrophic osteoarthropathy
Updated Aug 6, 2026
A recent study published in PubMed explores primary hypertrophic osteoarthropathy with anemia using (18)F-FDG PET/CT imaging. This research provides insights into the disease's metabolic characteristics, potentially guiding future diagnostic approaches.