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Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.
Features include very common findings: Osteolysis, Elevated alkaline phosphatase of bone origin, and Patchy reduction of bone mineral density; and common findings: Torticollis, Mild bone density loss (osteopenia), Edema, and Bone pain and others. 38 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 17 | Bone and joint problems (abnormality of the skeletal system), Cystic angiomatosis of bone, Osteolysis |
Biomarker and diagnostic research for Gorham-Stout disease has been reported in the published literature.
Phenotype severity distribution: 3 very common features, 19 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
44 publications have been identified in PubMed for Gorham-Stout disease. Research spans Case Report / Case Series (61%), Review / Meta-Analysis (11%), and Basic Science / Preclinical (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 27 | 61% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:07 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Gorham-Stout disease
Arms and legs | 3 | Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Abnormal finger morphology |
Head and neck | 2 | Abnormal facial skeleton morphology, Mandibular pain |
Ears | 1 | Hearing loss (hearing impairment) |
Lungs and breathing | 1 | Pleural effusion |
Thorax | 1 | Abnormality of the thoracic cavity |
Brain and nerves | 1 | Meningitis |
Research summaries |
5 |
11% |
Laboratory research | 4 | 9% |
Testing and diagnosis research | 3 | 7% |
New treatment approaches | 2 | 5% |
Other research | 1 | 2% |
Clinical study results | 1 | 2% |
Disease patterns and progression | 1 | 2% |
Falke I (2026). [PMID: 41391893](https://pubmed.ncbi.nlm.nih.gov/41391893/). *Seminars in radiation oncology*. [Clinical Trial Publication]
Cholet C (2026). [PMID: 41893969](https://pubmed.ncbi.nlm.nih.gov/41893969/). *Insights into imaging*. [Diagnostic / Biomarker]
Hennocq Q (2026). [PMID: 41934073](https://pubmed.ncbi.nlm.nih.gov/41934073/). *Oral surgery, oral medicine, oral pathology and oral radiology*. [Review / Meta-Analysis]
Karur AK (2026). [PMID: 41784417](https://pubmed.ncbi.nlm.nih.gov/41784417/). *Turk gogus kalp damar cerrahisi dergisi*. [Case Report / Case Series]
Li N (2026). [PMID: 41618413](https://pubmed.ncbi.nlm.nih.gov/41618413/). *Orphanet journal of rare diseases*. [Review / Meta-Analysis]
Vishlaghi N (2026). [PMID: 42085147](https://pubmed.ncbi.nlm.nih.gov/42085147/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Évora-López A (2026). [PMID: 41945080](https://pubmed.ncbi.nlm.nih.gov/41945080/). *Archivos de bronconeumologia*. [Case Report / Case Series]
Calayo JV (2025). [PMID: 39985316](https://pubmed.ncbi.nlm.nih.gov/39985316/). *International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics*. [Case Report / Case Series]
Lim DY (2025). [PMID: 41015859](https://pubmed.ncbi.nlm.nih.gov/41015859/). *Korean journal of radiology*. [Case Report / Case Series]
Yamaki H (2025). [PMID: 40672402](https://pubmed.ncbi.nlm.nih.gov/40672402/). *Respiratory medicine case reports*. [Case Report / Case Series]
AI-curated news mentioning Gorham-Stout disease
Updated Aug 17, 2026
A case study highlights Gorham-Stout disease at the craniovertebral junction, which led to bow hunter syndrome and cerebellar infarction. The patient was treated successfully with occipitocervical fusion, providing insights into management strategies for this rare condition.
A recent case report details Gorham-Stout disease manifesting as a chest wall defect, contributing to the understanding of this rare condition. The literature review included in the report may provide insights for clinicians and researchers alike.