Cutaneous lymphatic malformations in disappearing bone (Gorham-Stout) disease: A novel clue to the pathogenesis of a rare syndrome

doi:10.1016/j.jaad.2006.01.063

Journal of the American Academy of Dermatology

Volume 56, Issue 2, Supplement, February 2007, Pages S21-S25

https://doi.org/10.1016/j.jaad.2006.01.063 Get rights and content

Background

Gorham-Stout disease is an unusual, progressive syndrome of unknown etiology characterized by mono- or polyostotic osteolysis most often affecting children and young adults. The onset is insidious and the disease progresses to extensive and potentially disabling osteolysis often unresponsive to therapeutic intervention. Although bone and soft tissue lesions are the most frequent manifestations of Gorham-Stout disease, skin lesions can occur and may provide a clue to the pathogenesis of this rare syndrome.

Objective

Our aim was to describe characteristics of vascular skin lesions of this rare condition using magnetic resonance imaging and histomorphological analysis.

Methods

The case of a 36-year-old man with Gorham-Stout disease of the left leg and foot is reported.

Results

This case was remarkable for its prominent lymphatic vascular malformations involving the skin and soft tissues adjacent to the diseased bone—a previously undescribed abnormality, which preceded osteolysis for several years. Magnetic resonance imaging played a key role in defining the extent of disease in skin and soft tissues.

Limitations

It is difficult to assess the true incidence of hemangiomatosis in the earlier reports on Gorham-Stout disease in which hemangiomatous cutaneous lesions were mentioned but not described or illustrated.

Conclusion

A vascular process with angiomatous histological features is considered to be the pathological hallmark of Gorham-Stout disease, but the specific type of this vascular process is still under debate. Our report highlights a lymphatic malformative nature of Gorham-Stout disease, thereby contributing to a better understanding and characterization of this rare disease entity.

Section snippets

Case report

A 21-year-old man with a 7-year history of cutaneous lymphatic malformations of the left lower extremity was hospitalized for diffuse pain in the left leg secondary to a recent minor trauma. There was no personal or family history of systemic vascular processes, and no associated constitutional symptoms were observed. Without a definite diagnosis being made, he developed difficulty in walking and severe progresssive bone pain in the left leg, exacerbated by physical activity. One year after his

Discussion

Gorham-Stout disease, also known as disappearing bone disease, vanishing bone, or phantom bone, is a rare syndrome belonging to the primary idiopathic osteolyses. First described in 1838 by Jackson,¹ who reported the case of a young man with a progressively disappearing humerus, the syndrome became known as Gorham-Stout disease in 1955, when their review of 16 cases was published in the Journal of Bone and Joint Surgery.² The syndrome may occur in any bone, but common sites include the long

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Frost and Caplan [14] reported the association of cutaneous hemangioma with underlying osseous hemangiomatosis. Up to 60% of patients with DBD would present with vascular soft-tissue lesions, including hemangiomas and vascular malformations, which appear as small skin-colored papules and vesicles, irregular brown macules, or dark-red to purple [15]. Disappearing bone disease lesions may be localized or can spread to adjacent structures [10].
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Case report.
A review of the medical records since the time of initial hospital admission throughout follow-up was performed.
A female patient was first seen at our institution at the age of 14. She later developed DBD of the humerus and the spine. The initial difficulty encountered was reaching the diagnosis, and later on with management of the patient as the disease progressed. The case was complicated by syrinx and arachnoid cyst formation, which caused neurologic changes leading to tetraplegia and shunt infection. The patient's inability to form a solid fusion mass led to repeated implant loosening and progressive deformity despite efforts made to stabilize both the humerus and the spine. The treatment modalities used were oral bisphosphonates, rhBMP, repeated surgeries, and instrumentation with adjunct bone graft and substitutes. At the age of 56 years, the patient died because of septicemia secondary to urinary tract infection from tetraplegia.
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Conflicts of interest: None identified.

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Case ReportCutaneous lymphatic malformations in disappearing bone (Gorham-Stout) disease: A novel clue to the pathogenesis of a rare syndrome

Background

Objective

Methods

Results

Limitations

Conclusion

Section snippets

Case report

Discussion

Am J Med

A boneless arm

Boston Med Surg J

Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone): its relation to hemangiomatosis

J Bone Joint Surg Am

Gorham syndrome

JAMA

Massive osteolysis and angiomatosis

Radiology

Cutaneous hemangiomas and disappearing bones with a review of cutaneovisceral hemangiomatosis

Arch Dermatol

Hemangiomatosis with massive osteolysis

J Bone Joint Surg Br

Massive osteolysis–disappearing bones

J Bone Joint Surg Br

Cutaneous vascular malformations in disappearing bone (Gorham-Stout) disease

JAMA

Interleukin-6: a potential mediator of the massive osteolysis in patients with Gorham-Stout disease

J Clin Endocrinol Metab

Case Report
Cutaneous lymphatic malformations in disappearing bone (Gorham-Stout) disease: A novel clue to the pathogenesis of a rare syndrome