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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.
 
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.
Abnormality of the skeletal system
MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
An abnormality of the skeletal system.

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

Ricci KW, Iacobas I
Pediatr Blood Cancer 2022 Aug;69 Suppl 3:e28985. Epub 2021 Apr 12 doi: 10.1002/pbc.28985. PMID: 33844431
Schneider KN, Masthoff M, Gosheger G, Klingebiel S, Schorn D, Röder J, Vogler T, Wildgruber M, Andreou D
Acta Orthop 2020 Apr;91(2):209-214. Epub 2020 Jan 13 doi: 10.1080/17453674.2019.1709716. PMID: 31928107Free PMC Article
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

Rana I, Buonuomo PS, Mastrogiorgio G, Del Fattore A, Jenkner A, Barbuti D, De Vito R, Pizzoferro M, Callea M, Crostelli M, Mazza O, Rotunno R, Bartuli A
Lymphology 2021;54(4):182-194. PMID: 35073622
Schneider KN, Masthoff M, Gosheger G, Klingebiel S, Schorn D, Röder J, Vogler T, Wildgruber M, Andreou D
Acta Orthop 2020 Apr;91(2):209-214. Epub 2020 Jan 13 doi: 10.1080/17453674.2019.1709716. PMID: 31928107Free PMC Article
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
Itkin M, McCormack FX
Clin Chest Med 2016 Sep;37(3):409-20. doi: 10.1016/j.ccm.2016.04.004. PMID: 27514588
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

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
Itkin M, McCormack FX
Clin Chest Med 2016 Sep;37(3):409-20. doi: 10.1016/j.ccm.2016.04.004. PMID: 27514588
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
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
Mavrogenis AF, Zambirinis CP, Dimitriadis PA, Tsakanikas A, Papagelopoulos PJ
J Surg Orthop Adv 2010 Summer;19(2):85-90. PMID: 20727303

Therapy

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
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
Schneider KN, Masthoff M, Gosheger G, Klingebiel S, Schorn D, Röder J, Vogler T, Wildgruber M, Andreou D
Acta Orthop 2020 Apr;91(2):209-214. Epub 2020 Jan 13 doi: 10.1080/17453674.2019.1709716. PMID: 31928107Free PMC Article
Qu L, Cai X, Wang B
J Craniofac Surg 2018 Mar;29(2):460-461. doi: 10.1097/SCS.0000000000004188. PMID: 29309350
Mavrogenis AF, Zambirinis CP, Dimitriadis PA, Tsakanikas A, Papagelopoulos PJ
J Surg Orthop Adv 2010 Summer;19(2):85-90. PMID: 20727303

Prognosis

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
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
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
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
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

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
Schneider KN, Masthoff M, Gosheger G, Klingebiel S, Schorn D, Röder J, Vogler T, Wildgruber M, Andreou D
Acta Orthop 2020 Apr;91(2):209-214. Epub 2020 Jan 13 doi: 10.1080/17453674.2019.1709716. PMID: 31928107Free PMC Article
Rossi M, Buonuomo PS, Battafarano G, Conforti A, Mariani E, Algeri M, Pelle S, D'Agostini M, Macchiaiolo M, De Vito R, Gonfiantini MV, Jenkner A, Rana I, Bartuli A, Del Fattore A
Bone 2020 Jan;130:115068. Epub 2019 Sep 13 doi: 10.1016/j.bone.2019.115068. PMID: 31525474
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
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

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
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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