Gorham-Stout Disease of the Shoulder: Clinical, Pathologic and Therapeutic Considerations

Document Type : RESEARCH PAPER

Authors

1 1-The Rothman Institute, Department of Orthopaedic Surgery, Thomas Jefferson University Hospital, Philadelphia, PA, USA 2-Faculty of Medicine, American University of Beirut, Beirut, Lebanon 3-College of Medical, Veterinary, and Life

2 Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University

3 Neuroscience Research Center, Faculty of Medicine, Lebanese University, Beirut, Lebanon

4 The Rothman Institute The Sidney Kimmel Medical College at Thomas Jefferson University

Abstract

Background: Gorham-Stout disease (GSD) is a rare skeletal disorder characterized by massive osteolysis of a bony area in the body. When it hits the shoulder, the patient is faced with a debilitating limitation in terms of motion, stability and quality of life. GSD etiology and pathology are unknown and, as a result, therapeutic modalities remain unclear. The aim of this paper is to explore and offer medical insight into the possible etiologies, pathologies and therapeutic modalities of Gorham-Stout Disease in the shoulder.

Methods: We explored PubMed/Medline for GSD cases in the shoulder. The search involved all articles published from database inception until February 1, 2019. Only articles published in English were included. Demographics and clinical information extrapolated from the reported cases were analyzed to deduce patterns and infer conclusions.

Results: Only 32 studies met our criteria, with a total of 37 cases (n=37). Males predominated in 21 cases (57%). Twelve cases (32%) were younger than 18 years, and 18 cases (49%) were aged between 18 and 65 years. Shoulder pain was the predominant reporting symptom. The humerus was the most common shoulder site affected (54%), followed by the scapula (35%) and the clavicle (30%). Almost half of the cases affected the right shoulder (51%), the left shoulder was affected in 16 cases (43%). Conservative treatment was opted in 17 cases (46%), while surgery was performed in 13 cases (35%). Good outcomes were reported in 28 cases (76%), while death occurred twice (5%).

Conclusion: Understanding the demographics and clinical characteristics of GSD in the shoulder region will help in formulating better therapeutic interventions and preventive health policies.

Keywords

Main Subjects


1. Dong Q, Zhang Y, Sun C, Guo J. Gorham-Stout
syndrome affecting the left mandible: a case report.
Exp Ther Med. 2013; 5(1):162-4.
2. Wang W, Wang H, Zhou X, Li X, Sun W, Dellinger M,
et al. Lymphatic endothelial cells produce M‐CSF,
causing massive bone loss in mice. J Bone Miner Res.
2017; 32(5):939-50.
3. Manisali M, Ozaksoy D. Gorham disease: correlation
of MR findings with histopathologic changes. Eur
Radiol. 1998; 8(9):1647-50.
4. van der Linden-van der Zwaag H, Onvlee GJ. Massive
osteolysis (Gorham’s disease) affecting the femur.
Acta Orthop Belg. 2006; 72(3):261-8.
5. Bode-Lesniewska B, Von Hochstetter A, Exner G,
Hodler J. Gorham-stout disease of the shoulder girdle
and cervico-thoracic spine: fatal course in a 65-yearold
woman. Skeletal Radiol. 2002; 31(12):724-9.
6. Yoo SY, Hong SH, Chung HW, Choi JA, Kim CJ, Kang
HS. MRI of Gorham’s disease: findings in two cases.
Skeletal Radiol. 2002; 31(5):301-6.
7. Mavrogenis AF, Zambirinis CP, Dimitriadis PA,
Tsakanikas A, Papagelopoulos PJ. Gorham-Stout
disease. J Surg Orthop Adv. 2010; 19(2):85-90.
8. Maillot C, Cloche T, Le Huec JC. Thoracic osteotomy for
Gorham-stout disease of the spine: a case report and
literature review. Eur Spine J. 2018; 27(9):2285-90.
9. Möller G, Priemel M, Amling M, Werner M, Kuhlmey
AS, Delling G. The Gorham-stout syndrome
(Gorham’s massive osteolysis). A report of six cases
with histopathological findings. J Bone Joint Surg Br.
1999; 81(3):501-6.
10. Kulenkampff HA, Richter GM, Hasse WE, Adler
CP. Massive pelvic osteolysis in the Gorham-Stout
syndrome. Int Orthop. 1990; 14(4):361-6.
11. Lee S, Finn L, Sze RW, Perkins JA, Sie KC. Gorham
stout syndrome (disappearing bone disease):
two additional case reports and a review of the
literature. Arch Otolaryngol Head Neck Surg. 2003;
129(12):1340-3.
12. Hofbauer LC, Klassen RA, Khosla S. Gorham-Stout 
disease (phantom bone) of the shoulder girdle.
Rheumatology. 1999; 38(9):904-5.
13. Bedi G. Shoulder injury in athletes. J Clin Orthop
Trauma. 2011; 2(2):85-92.
14. Gorham LW, Wright AW, Shultz HH, Maxon FC
Jr. Disappearing bones: a rare form of massive
osteolysis: report of two cases, one with autopsy
findings. Am J Med. 1954; 17(5):674-82.
15. Jacobs P. Post-traumatic osteolysis of the outer end of
the clavicle. J Bone Joint Surg Br. 1964; 46(4):705-7.
16. Feigl D, Seidel L, Marmor A. Gorham’s disease of the
clavicle with bilateral pleural effusions. Chest. 1981;
79(2):242-4.
17. Hugo B, Schmidt M. Pseudo-tumour of the shoulder
after massive osteolysis (Gorham-Stout). Rofo. 1989;
150(1):108-10.
18. Damron TA, Brodke DS, Heiner JP, Swan JS, DeSouky S.
Case report 803. Skeletal Radiol. 1993; 22(6):464-7.
19. Canil K, Fitzgerald P, Lau G. Massive chylothorax
associated with lymphangiomatosis of the bone. J
Pediatr Surg. 1994; 29(9):1186-8.
20. Sato K, Sugiura H, Yamamura S, Mieno T, Nagasaka
T, Nakashima N. Gorham massive osteolysis. Arch
Orthop Trauma Surg. 1997; 116(8):510-3.
21. Pans S, Simon JP, Dierickx C. Massive osteolysis of
the shoulder (Gorham-stout syndrome). J Shoulder
Elbow Surg. 1999; 8(3):281-3.
22. Möller G, Priemel M, Amling M, Werner M, Kuhlmey
AS, Delling G. The Gorham-Stout syndrome
(Gorham’s massive osteolysis). A report of six cases
with histopathological findings. J Bone Joint Surg Br.
1999; 81(3):501-6.
23. Mochizuki K, Koyama S, Ishii Y. Seventeen-year
follow-up of massive osteolysis of the scapula. J
Orthop Sci. 2000; 5(6):618-21.
24. Rao P, Kotwal PP, Goel S. Painless destruction of the
shoulder joint: a case report. Clin Rheumatol. 2001;
20(2):143-6.
25. Vrettos BC, Wallace WA, Neumann L, Frostick SP.
Total scapular replacement: medium-term follow-
up. J Shoulder Elbow Surg. 2004; 13(4):472-5.
26. Underwood J, Buckley J, Manning B. Gorham disease:
an intraoperative case study. AANA J. 2006; 74(1):45-8.
27. Jangid S, Mittal R, Sharma V, Das AK. Progressive
massive osteolysis of the humerus. J Shoulder Elbow
Surg. 2006; 15(3):386-90.
28. Sestan B, Miletic D. Rapid idiopathic osteolysis of the
humeral head and clavicle. West Indian Med J. 2006;
55(5):354-7.
29. Malik R, Malik R, Tandon S, Tandon P. Skeletal
angiomatosis-rare cause of bone destruction: a case
report with review of literature. Indian J Pathol
Microbiol. 2008; 51(4):515-8.
30. Buerfeind A, Bürger H, Schlüter-Brust K, Eysel P,
Delank KS. Gorham-Stout syndrome (GSS) with
fulminant aseptic osteonecrosis of the shoulder.
Orthopade. 2010; 39(10):1003-8.
31. De Smet K, De Maeseneer M, Huijssen-Huisman E,
Van Gorp V, Hachimi-Idrissi S, Ernst C. A rare cause
of dyspnea due to chylothorax. Emerg Radiol. 2010;
17(6):503-5.
32. Garbers E, Reuther F, Delling G. Report of a rare
case of Gorham-stout disease of both shoulders:
bisphosphonate treatment and shoulder replacement.
Case Rep Rheumatol. 2011; 2011:565142.
33. Busilacchi A, Ramazzotti D, Ulisse S, Gigante A.
Gorham-Stout disease as a complication of posterior
shoulder capsulorrhaphy J Shoulder Elbow Surg.
2012; 21(9):e1-7.
34. Zheng MW, Yang M, Qiu JX, Nan XP, Huang LY, Zhang
WD, et al. Gorham-Stout syndrome presenting in a
5-year-old girl with a successful bisphosphonate
therapeutic effect. Exp Ther Med. 2012; 4(3):449-51.
35. El-Kouba G, de Araujo Santos R, Pilluski PC, Severo
A, Lech O. Gorham-stout syndrome: phantom bone
disease. Rev Bras Ortop. 2015; 45(6):618-22.
36. Liu Y, Zhong DR, Zhou PR, Lv F, Ma DD, Xia WB, et al.
Gorham-stout disease: radiological, histological, and
clinical features of 12 cases and review of literature.
Clin Rheumatol. 2016; 35(3):813-23.
37. Brunner U, Rückl K, Konrads C, Rudert M, Plumhoff
P. Gorham-stout syndrome of the shoulder. SICOT J.
2016; 2(1):25.
38. Brance ML, Castiglioni A, Cóccaro N, Palatnik M. Two
cases of Gorham-stout disease with good response
to zoledronic acid treatment. Clin Cases Miner Bone
Metab. 2017; 14(2):250-3.
39. Papadakis GZ, Millo C, Bagci U, Blau J, Collins MT.
18F-NaF and 18F-FDG PET/CT in Gorham-Stout
disease. Clin Nucl Med. 2016; 41(11):884-5.
40. Stevens J, Flower H, Patton JT. What does vanishing
bone disease look like? BMJ Case Rep. 2018;
2018:bcr-2017.
41. Suranigi SM, Kerketta AH, Palaniappan P, Najimudeen
SP. An interesting case of vanishing shoulder. BMJ
Case Rep. 2018; 2018:bcr-2018.
42. Li MH, Zhang HQ, Lu YJ, Gao P, Huang H, Hu YC, et al.
Successful management of gorham–stout disease in
scapula and ribs: a case report and literature review.
Orthop Surg. 2018; 10(3):276-80.
43. Wang Z, Li K. A girl with Gorham–stout disease. J
Pediatr. 2018; 203(1):456.
44. Wilk KE, Obma P, Simpson CD, Cain EL, Dugas J,
Andrews JR. Shoulder injuries in the overhead athlete.
J Orthop Sports Phys Ther. 2009; 39(2):38-54.
45. Fares MY, Salhab HA, Khachfe HH, Kane L, Fares Y,
Fares J, et al. Upper limb injuries in major league
baseball. Phys Ther Sport. 2020; 41:49-54.
46. Fares MY, Fares J, Baydoun H, Fares Y. Prevalence
and patterns of shoulder injuries in major league
baseball. Phys Sportsmed. 2019; 17(1):1-5.
47. Fares MY, Fares J, Fares Y, Abboud JA. Musculoskeletal
and head injuries in the Ultimate Fighting
Championship (UFC). Phys Sportsmed. 2019;
47(2):205-11.
48. Fares J, Fares MY, Fares Y. Musculoskeletal neck
pain in children and adolescents: risk factors and
complications. Surg Neurol Int. 2017; 8(1):72.
49. Fares MY, Dimassi Z, Baydoun H, Musharrafieh U.
Slipping rib syndrome: solving the mystery of the
shooting pain. Am J Med Sci. 2018; 357(2):168-73.
50. Fares MY, Fares J, Baydoun H, Fares Y. Sport and
exercise medicine research activity in the Arab
world: a 15-year bibliometric analysis. BMJ Open
Sport Exerc Med. 2017; 3(1):e000292.
51. Johnson PM, McClure JG. Observations on massive
osteolysis: a review of the literature and report of a
case. Radiology. 1958; 71(1):28-42.
52. Vinée P, Tanyü MO, Hauenstein KH, Sigmund G,
Stöver B, Adler CP. CT and MRI of Gorham syndrome.
J Comput Assist Tomogr. 1994; 18(6):985-9.
53. Malik R, Malik R, Tandon S, Tandon P. Skeletal
angiomatosis-rare cause of bone destruction: a case
report with review of literature. Indian J Pathol
Microbiol. 2008; 51(4):515-8.
54. Sage MR, Allen PW. Massive osteolysis. Report of a
case. J Bone Joint Surg Br. 1974; 56(1):130-5.
55. Liu M, Liu W, Qiao C, Han B. Mandibular Gorham–
stout disease: a case report and literature review.
Medicine. 2017; 96(42):e8184.
56. Ozbayrak M, Yilmaz MH, Kantarci F, Ozer H, Harmanci
K, Babacan M, et al. A case of an idiopathic massive
osteolysis with skip lesions. Korean J Radiol. 2013;
14(6):946-50.
57. Nikolaou VS, Chytas D, Korres D, Efstathopoulos N.
Vanishing bone disease (Gorham-stout syndrome):
a review of a rare entity. World J Orthop. 2014;
5(5):694-8.
58. Heffez L, Doku HC, Carter BL, Feeney JE. Perspectives
on massive osteolysis: report of a case and review of
the literature. Oral Surg Oral Med Oral Pathol. 1983;
55(4):331-43.
59. Marymont JV. Comparative imaging: massive
osteolysis (Gorham’s syndrome, disappearing bone
disease). Clin Nucl Med. 1987; 12(2):153-4.
60. Assoun J, Richardi G, Railhac JJ, Le Guennec P,
Caulier M, Dromer C, et al. CT and MRI of massive
osteolysis of Gorham. J Comput Assist Tomogr. 1994;
18(6):981-4.
61. Gorham LW, Stout AP. Massive osteolysis (acute
spontaneous absorption of bone, phantom bone,
disappearing bone): its relation to hemangiomatosis.
J Bone Joint Surg Am. 1955; 37(5):985-1004.
62. Fornasier VL. Haemangiomatosis with massive
osteolysis. J Bone Joint Surg Br. 1970; 52(3):444-51.
63. Nisbet JA, Helliwell S, Nordin BE. Relation of lactic and
citric acid metabolism to bone resorption in tissue
culture. Clin Orthop Relat Res. 1970; 70(1):220-30.
64. Heyden G, Kindblom LG, Nielsen JM. Disappearing
bone disease. A clinical and histological study. J Bone
Joint Surg Am. 1977; 59(1):57-61.
65. Dellinger MT, Garg N, Olsen BR. Viewpoints on vessels
and vanishing bones in Gorham-Stout disease. Bone.
2014; 63(1):47-52.
66. Devlin RD, Bone HG 3rd, Roodman GD. Interleukin-6:
a potential mediator of the massive osteolysis in
patients with Gorham-Stout disease. J Clin Endocrinol
Metab. 1996; 81(5):1893-7.
67. Thompson JS, Schurman DJ. Massive osteolysis: case
report and review of literature. Clin Orthop Relat
Res. 1974; 103(1):206-11.
68. Koršić M, Jelašić D, Potočki K, Giljević Z, Aganović I.
Massive osteolysis in a girl with agenesis of thyroid C
cells. Skeletal Radiol. 1998; 27(9):525-8.
69. Hu P, Yuan XG, Hu XY, Shen FR, Wang JA. Gorhamstout
syndrome in mainland China: a case series of
67 patients and review of the literature. J Zhejiang
Univ Sci B. 2013; 14(8):729-35.
70. Hammer F, Kenn W, Wesselmann U, Hofbauer LC,
Delling G, Allolio B, et al. Gorham‐stout disease--
stabilization during bisphosphonate treatment. J
Bone Miner Res. 2005; 20(2):350-3.
71. Bruch-Gerharz D, Gerharz CD, Stege H, Krutmann
J, Pohl M, Koester R, et al. Cutaneous lymphatic
malformations in disappearing bone (Gorhamstout)
disease: a novel clue to the pathogenesis of
a rare syndrome. J Am Acad Dermatol. 2007; 56(2
Suppl):S21-5.
72. Radhakrishnan K, Rockson SG. Gorham’s disease.
Ann N Y Acad Sci. 2008; 1131(1):203-5.
73. Binder H, Weber PC, Siess W. Separation of inositol
phosphates and glycerophosphoinositol phosphates
by high-performance liquid chromatography. Anal
Biochem. 1985; 148(1):220-7.
74. Aizawa T, Sato T, Kokubun S. Gorham disease of the
spine: a case report and treatment strategies for this
enigmatic bone disease. Tohoku J Exp Med. 2005;
205(2):187-96.
75. Patel DV. Gorham’s disease or massive osteolysis.
Clin Med Res. 2005; 3(2):65-74.
76. Dunbar SF, Rosenberg A, Mankin H, Rosenthal D,
Suit HD. Gorham’s massive osteolysis: the role of
radiation therapy and a review of the literature. Int J
Radiat Oncol Biol Phys. 1993; 26(3):491-7.