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Gorham-Stout disease(GSD)

MedGen UID:
45248
•Concept ID:
C0029438
•
Disease or Syndrome
Synonyms: Gorham disease; Gorham's disease; Osteolysis, Massive
SNOMED CT: Gorham disease (1515008); Gorham's disease (1515008); Massive osteolysis (1515008); Phantom bone disease (1515008); Hemangiomata with osteolysis (1515008); Osteolysis and angiomatous nevi (1515008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0007414
OMIM®: 123880
Orphanet: ORPHA73

Definition

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGorham-Stout disease
Follow this link to review classifications for Gorham-Stout disease in Orphanet.

Professional guidelines

PubMed

Clinical features and current management experience in Gorham-Stout disease: a systematic review.
Zhou Z, Qiu T, Zhou J, Zhang Z, Gong X, Zhang X, Lan Y, Yang C, Zhang Y, Xiang S, Ji Y
Orphanet J Rare Dis 2025 Mar 19;20(1):134. doi: 10.1186/s13023-025-03649-9. PMID: 40102890Free PMC Article
Differential Diagnosis of Generalized Cystic Lymphangiomatosis: A Literature Review.
Keven A, Gürbüz AF
Curr Med Imaging 2024;20:e15734056264320. doi: 10.2174/0115734056264320231109071607. PMID: 38389351
Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment.
Snyder EJ, Sarma A, Borst AJ, Tekes A
AJR Am J Roentgenol 2022 Jun;218(6):1089-1101. Epub 2022 Jan 19 doi: 10.2214/AJR.21.27200. PMID: 35043669

Recent clinical studies

Etiology

Gorham-Stout disease with thoracic involvement: pathogenic mechanisms, respiratory complications, and multimodal therapies.
Li N, Le X, Xu D, Chen T, Zeng Y, Wang J
Orphanet J Rare Dis 2026 Jan 30;21(1) doi: 10.1186/s13023-026-04220-w. PMID: 41618413Free PMC Article
Clinical features and current management experience in Gorham-Stout disease: a systematic review.
Zhou Z, Qiu T, Zhou J, Zhang Z, Gong X, Zhang X, Lan Y, Yang C, Zhang Y, Xiang S, Ji Y
Orphanet J Rare Dis 2025 Mar 19;20(1):134. doi: 10.1186/s13023-025-03649-9. PMID: 40102890Free PMC Article
Gorham stout disease in pregnancy.
Calayo JV, Corro AB 3rd, Factor PAA
Int J Gynaecol Obstet 2025 Aug;170(2):529-531. Epub 2025 Feb 22 doi: 10.1002/ijgo.70040. PMID: 39985316
Differential Diagnosis of Generalized Cystic Lymphangiomatosis: A Literature Review.
Keven A, Gürbüz AF
Curr Med Imaging 2024;20:e15734056264320. doi: 10.2174/0115734056264320231109071607. PMID: 38389351
Nonmalignant Adult Thoracic Lymphatic Disorders.
Itkin M, McCormack FX
Clin Chest Med 2016 Sep;37(3):409-20. doi: 10.1016/j.ccm.2016.04.004. PMID: 27514588

Diagnosis

Exploring the genetic alterations of Gorham-Stout disease.
Pagliarosi O, Pepe J, Del Fattore A, Rossi M
Front Endocrinol (Lausanne) 2025;16:1654497. Epub 2025 Aug 19 doi: 10.3389/fendo.2025.1654497. PMID: 40904803Free PMC Article
Gorham stout disease in pregnancy.
Calayo JV, Corro AB 3rd, Factor PAA
Int J Gynaecol Obstet 2025 Aug;170(2):529-531. Epub 2025 Feb 22 doi: 10.1002/ijgo.70040. PMID: 39985316
Primary versus trauma-induced Gorham-Stout disease.
Tanoue N, Moedano L, Witte M, Montague M, Lukefahr A, Bernas M
Lymphology 2018;51(1):18-27. PMID: 30248728Free PMC Article
Complex lymphatic anomalies.
Trenor CC 3rd, Chaudry G
Semin Pediatr Surg 2014 Aug;23(4):186-90. Epub 2014 Jul 22 doi: 10.1053/j.sempedsurg.2014.07.006. PMID: 25241096
Gorham-Stout disease.
Mavrogenis AF, Zambirinis CP, Dimitriadis PA, Tsakanikas A, Papagelopoulos PJ
J Surg Orthop Adv 2010 Summer;19(2):85-90. PMID: 20727303

Therapy

Radiotherapy for Other Nonmalignant Diseases.
Falke I, Schäfer U, Micke O, Mücke R, Kriz J
Semin Radiat Oncol 2026 Jan;36:127-134. doi: 10.1016/j.semradonc.2025.11.003. PMID: 41391893
Lymphatic Malformation: Classification, Pathogenesis, and Therapeutic Strategies.
Zhang C, Liu J, Wang Y, Zheng Y, Malashicheva A, Qi L, Shi X, Liu J
Ann Vasc Surg 2025 Dec;121:35-46. Epub 2025 May 23 doi: 10.1016/j.avsg.2025.05.028. PMID: 40414533
A Girl with Gorham-Stout Disease.
Wang Z, Li K
J Pediatr 2018 Dec;203:456. Epub 2018 Aug 31 doi: 10.1016/j.jpeds.2018.07.076. PMID: 30177349
Chylothorax From Gorham-Stout Disease.
Kotaru AC, Rajput AK
J Bronchology Interv Pulmonol 2018 Oct;25(4):340-342. doi: 10.1097/LBR.0000000000000506. PMID: 29771777
Gorham-Stout disease.
Mavrogenis AF, Zambirinis CP, Dimitriadis PA, Tsakanikas A, Papagelopoulos PJ
J Surg Orthop Adv 2010 Summer;19(2):85-90. PMID: 20727303

Prognosis

Gorham-Stout disease of skull base leading to cranial settling and rhinorrhea: a case-based review.
Maroufi SF, Habibi Z, Dabbagh Ohadi MA, Mohammadi E, Nejat F
Childs Nerv Syst 2022 Apr;38(4):695-703. Epub 2022 Feb 25 doi: 10.1007/s00381-021-05394-3. PMID: 35217940
Gorham-Stout disease with involvement of the jaws: a systematic review.
Chrcanovic BR, Gomez RS
Int J Oral Maxillofac Surg 2019 Aug;48(8):1015-1021. Epub 2019 Mar 18 doi: 10.1016/j.ijom.2019.03.002. PMID: 30898430
Primary versus trauma-induced Gorham-Stout disease.
Tanoue N, Moedano L, Witte M, Montague M, Lukefahr A, Bernas M
Lymphology 2018;51(1):18-27. PMID: 30248728Free PMC Article
Complex lymphatic anomalies.
Trenor CC 3rd, Chaudry G
Semin Pediatr Surg 2014 Aug;23(4):186-90. Epub 2014 Jul 22 doi: 10.1053/j.sempedsurg.2014.07.006. PMID: 25241096
Gorham-Stout disease: the experience of the Rizzoli Institute and review of the literature.
Ruggieri P, Montalti M, Angelini A, Alberghini M, Mercuri M
Skeletal Radiol 2011 Nov;40(11):1391-7. Epub 2010 Oct 25 doi: 10.1007/s00256-010-1051-9. PMID: 20972870

Clinical prediction guides

Gorham-Stout disease with thoracic involvement: pathogenic mechanisms, respiratory complications, and multimodal therapies.
Li N, Le X, Xu D, Chen T, Zeng Y, Wang J
Orphanet J Rare Dis 2026 Jan 30;21(1) doi: 10.1186/s13023-026-04220-w. PMID: 41618413Free PMC Article
Clinical features and current management experience in Gorham-Stout disease: a systematic review.
Zhou Z, Qiu T, Zhou J, Zhang Z, Gong X, Zhang X, Lan Y, Yang C, Zhang Y, Xiang S, Ji Y
Orphanet J Rare Dis 2025 Mar 19;20(1):134. doi: 10.1186/s13023-025-03649-9. PMID: 40102890Free PMC Article
Gorham-Stout disease of skull base leading to cranial settling and rhinorrhea: a case-based review.
Maroufi SF, Habibi Z, Dabbagh Ohadi MA, Mohammadi E, Nejat F
Childs Nerv Syst 2022 Apr;38(4):695-703. Epub 2022 Feb 25 doi: 10.1007/s00381-021-05394-3. PMID: 35217940
Gorham-Stout disease with involvement of the jaws: a systematic review.
Chrcanovic BR, Gomez RS
Int J Oral Maxillofac Surg 2019 Aug;48(8):1015-1021. Epub 2019 Mar 18 doi: 10.1016/j.ijom.2019.03.002. PMID: 30898430
Complex lymphatic anomalies.
Trenor CC 3rd, Chaudry G
Semin Pediatr Surg 2014 Aug;23(4):186-90. Epub 2014 Jul 22 doi: 10.1053/j.sempedsurg.2014.07.006. PMID: 25241096

Recent systematic reviews

Clinical features and current management experience in Gorham-Stout disease: a systematic review.
Zhou Z, Qiu T, Zhou J, Zhang Z, Gong X, Zhang X, Lan Y, Yang C, Zhang Y, Xiang S, Ji Y
Orphanet J Rare Dis 2025 Mar 19;20(1):134. doi: 10.1186/s13023-025-03649-9. PMID: 40102890Free PMC Article
Management of Gorham Stout disease with skull-base defects: Case series of six children and literature review.
Simon F, Luscan R, Khonsari RH, Toubiana J, Belhous K, James S, Blauwblomme T, Zerah M, Denoyelle F, Donadieu J, Couloigner V
Int J Pediatr Otorhinolaryngol 2019 Sep;124:152-156. Epub 2019 Jun 5 doi: 10.1016/j.ijporl.2019.06.002. PMID: 31195309
Gorham-Stout disease with involvement of the jaws: a systematic review.
Chrcanovic BR, Gomez RS
Int J Oral Maxillofac Surg 2019 Aug;48(8):1015-1021. Epub 2019 Mar 18 doi: 10.1016/j.ijom.2019.03.002. PMID: 30898430
Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
Faruqi T, Dhawan N, Bahl J, Gupta V, Vohra S, Tu K, Abdelmagid SM
Biomed Res Int 2014;2014:670842. Epub 2014 Oct 22 doi: 10.1155/2014/670842. PMID: 25530967Free PMC Article

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