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diffuse cystic angiomatosis of bone

MIM.123880 OPRHA73

Wednesday 25 August 2010

Definition: Gorham-Stout disease, also known as disappearing bone disease, vanishing bone disease, or phantom bone disease, is a very rare syndrome belonging to the primary idiopathic
osteolyses.

The Gorham-Stout Syndrome (Gorham’s massive osteolysis) is a rare condition in which spontaneous, progressive resorption of bone occurs. The aetiology is poorly understood.

Gorham-Stout disease (GSD) is defined as a spontaneous, massive osteolysis characterized by local proliferation of small vascular or lymphatic vessels resulting in progressive destruction and resorption of bone.

Gorham-Stout disease (GSD) is a rare condition of unknown etiology that occurs sporadically and usually affects children and young adults without sex preference. Fewer than 200 cases are reported in the literature.

Since its first description in 1955, there is still controversy about its etiology, prognosis and treatment.

GSD may affect one or more, often contiguous bones, with predominant sites of manifestation including the pelvis, shoulder girdle, spine, ribs and skull.

Clinical signs at presentation include pain, swelling and spontaneous fractures.

Osteolysis may stop progressing at any time, but often osseous tissue completely disappears, leaving only a residual fibrous band, a dramatic development inspiring the term "vanishing bone disease."

Diagnosis is based on clinical, radiological and histopathological findings.

Since GSD is usually a diagnosis of exclusion, it is important to be differentiated from osteolysis caused by infection, inflammation, endocrine disorders and tumours.

Synopsis

The syndrome may occur in any bone, but common sites include the long bones, the shoulder, and the pelvis.

Gorham and Stout emphasized the following clinical features:

- progressive osteolysis of 1 or more bones in children and young adults;
- history of minor trauma, often associated with a pathological fracture;
-  vascular malformations in the affected bones or surrounding soft tissues.

The massive osteolysis characteristic of this disease may be associated with capillary, venous, or lymphatic malformative processes.

Although bone and soft tissue lesions are the most frequent manifestations of
Gorham-Stout disease, localized or widespread vascular skin lesions may herald, as with this patient, an underlying osteolytic process.

Microscopy

- Bone lesions revealed a widespread vascular malformation with ectatic, thin-walled, sinusoidal vessels in zones where bone structures had almost completely disappeared.
- cutaneous lesions

  • papular lesions
  • lymphatic vascular malformation

Management

No effective treatment is standardized yet.

Management of GSD includes surgery, radiotherapy and various medications (alone or combined): vitamin D, sodium fluoride, calcium glycerophosphate, Interpheron alfa 2b, bisphosphonates.

References

- Gorham-Stout syndrome: a rare clinical entity and review of literature. Gondivkar SM, Gadbail AR. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 Feb;109(2):e41-8. PMID: 19969488

- Gorham’s disease: an osseous disease of lymphangiogenesis? Radhakrishnan K, Rockson SG. Ann N Y Acad Sci. 2008;1131:203-5. Review.PMID: 18519972

- Cutaneous Vascular Malformations in Disappearing Bone (Gorham-Stout) Disease. Daniela Bruch-Gerharz; Claus-Dieter Gerharz; Helger Stege; et al.
Bone (Gorham-Stout) Disease. JAMA. 2003;289(12):1479-1480 (doi : <a href="http://doi.org/10.1001/jama.289.12.1479)

- Jackson J. A boneless arm. Boston Med Surg J. 1838;18:368-369.

- Gorham L, Stout A. Massive osteolysis (acute spontaneous absorption of bone,
phantom bone, disappearing bone): its relation to hemangiomatosis. J Bone Joint Surg Am. 1955;37:985-1004.

- Mulliken JB, Glowacki J. Hemangiomas and vascular malformations in infants
and children: a classification based on endothelial characteristics. Plast Reconstr
Surg. 1982;69:412-422.