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Gorham-Stout disease(GSD)

MedGen UID:
45248
•Concept ID:
C0029438
•
Disease or Syndrome
Synonyms: Cystic angiomatosis of bone diffuse; Gorham disease; Gorham's disease; Gorham-Stout syndrome; Osteolysis, Massive; Vanishing bone disease
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]

Clinical features

From HPO
Cystic angiomatosis of bone
MedGen UID:
867384
•Concept ID:
C4021749
•
Finding
Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.
See: Feature record | Search on this feature
Abnormality of the skeletal system
MedGen UID:
867418
•Concept ID:
C4021790
•
Anatomical Abnormality
An abnormality of the skeletal system.
See: Feature record | Search on this feature

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

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
How we approach the diagnosis and management of complex lymphatic anomalies.
Ricci KW, Iacobas I
Pediatr Blood Cancer 2022 Aug;69 Suppl 3:e28985. Epub 2021 Apr 12 doi: 10.1002/pbc.28985. PMID: 33844431
Diagnosis and Treatment of Gorham-Stout Disease in Maxillofacial Regions.
Qu L, Cai X, Wang B
J Craniofac Surg 2018 Mar;29(2):460-461. doi: 10.1097/SCS.0000000000004188. PMID: 29309350

Recent clinical studies

Etiology

Characterization of Extracellular Vesicles in Osteoporotic Patients Compared to Osteopenic and Healthy Controls.
Pepe J, Rossi M, Battafarano G, Vernocchi P, Conte F, Marzano V, Mariani E, Mortera SL, Cipriani C, Rana I, Buonuomo PS, Bartuli A, De Martino V, Pelle S, Pascucci L, Toniolo RM, Putignani L, Minisola S, Del Fattore A
J Bone Miner Res 2022 Nov;37(11):2186-2200. Epub 2022 Sep 14 doi: 10.1002/jbmr.4688. PMID: 36053959Free PMC Article
Gorham-Stout disease with parietal bone osteolysis: a case series and review of literature.
Takaya K, Sakamoto Y, Miwa T, Yoshida K, Kishi K
Br J Neurosurg 2021 Feb;35(1):27-31. Epub 2020 Mar 27 doi: 10.1080/02688697.2020.1744524. PMID: 32216589
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
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
Gorham-Stout disease and generalized lymphatic anomaly--clinical, radiologic, and histologic differentiation.
Lala S, Mulliken JB, Alomari AI, Fishman SJ, Kozakewich HP, Chaudry G
Skeletal Radiol 2013 Jul;42(7):917-24. Epub 2013 Jan 31 doi: 10.1007/s00256-012-1565-4. PMID: 23371338

Diagnosis

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
Mandibular Gorham-Stout disease: A case report and literature review.
Liu M, Liu W, Qiao C, Han B
Medicine (Baltimore) 2017 Oct;96(42):e8184. doi: 10.1097/MD.0000000000008184. PMID: 29049202Free 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
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

Clinical and radiological improvement in Gorham-Stout disease after sirolimus treatment.
Barnes-Saldaña F, Venegas-Andrade A, Colin-Martínez Ó, Lizardo-Rodríguez A, García-Romero MT, Durán-McKinster C
Bol Med Hosp Infant Mex 2023;80(3):217-221. doi: 10.24875/BMHIM.23000015. PMID: 37467447
Difficult Therapeutic Decisions in Gorham-Stout Disease-Case Report and Review of the Literature.
Wojciechowska-Durczynska K, Zygmunt A, Mikulak M, Ludwisiak M, Lewinski A
Int J Environ Res Public Health 2022 Sep 16;19(18) doi: 10.3390/ijerph191811692. PMID: 36141975Free PMC Article
Gorham-Stout disease successfully treated with sirolimus (rapamycin): a case report and review of the literature.
Liang Y, Tian R, Wang J, Shan Y, Gao H, Xie C, Li J, Xu M, Gu S
BMC Musculoskelet Disord 2020 Aug 25;21(1):577. doi: 10.1186/s12891-020-03540-7. PMID: 32843029Free PMC Article
Novel approach of treating Gorham-Stout disease in the humerus--Case report and review of literature.
Ellati R, Attili A, Haddad H, Al-Hussaini M, Shehadeh A
Eur Rev Med Pharmacol Sci 2016;20(3):426-32. PMID: 26914115
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: 3 additional cases with 2 very rare polyostotic diseases.
Mbaga AC, Verhelle CE, de Wouters S, Barbier O, Boon L, Docquier PL
Acta Orthop Belg 2022 Sep;88(3):475-481. doi: 10.52628/88.3.10244. PMID: 36791700
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
Mandibular Gorham-Stout disease: A case report and literature review.
Liu M, Liu W, Qiao C, Han B
Medicine (Baltimore) 2017 Oct;96(42):e8184. doi: 10.1097/MD.0000000000008184. PMID: 29049202Free 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

Characterization of Extracellular Vesicles in Osteoporotic Patients Compared to Osteopenic and Healthy Controls.
Pepe J, Rossi M, Battafarano G, Vernocchi P, Conte F, Marzano V, Mariani E, Mortera SL, Cipriani C, Rana I, Buonuomo PS, Bartuli A, De Martino V, Pelle S, Pascucci L, Toniolo RM, Putignani L, Minisola S, Del Fattore A
J Bone Miner Res 2022 Nov;37(11):2186-2200. Epub 2022 Sep 14 doi: 10.1002/jbmr.4688. PMID: 36053959Free 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 parietal bone osteolysis: a case series and review of literature.
Takaya K, Sakamoto Y, Miwa T, Yoshida K, Kishi K
Br J Neurosurg 2021 Feb;35(1):27-31. Epub 2020 Mar 27 doi: 10.1080/02688697.2020.1744524. PMID: 32216589
Gorham-Stout disease: radiological, histological, and clinical features of 12 cases and review of literature.
Liu Y, Zhong DR, Zhou PR, Lv F, Ma DD, Xia WB, Jiang Y, Wang O, Xing XP, Li M
Clin Rheumatol 2016 Mar;35(3):813-23. Epub 2014 Sep 18 doi: 10.1007/s10067-014-2780-2. PMID: 25227772
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

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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