Cystic angiomatosis (CA)

(OMIM #123880)

Cystic angiomatosis is a nonaggressive form of skeletal angiomatosis with multifocal hemangiomatous and/or lymphangiomatous lesions of the skeleton, predominantly affecting the trunk bones, with possible visceral organ involvement. The exact pathogenetic mechanism of the disease is not still clear. The disorder can affect any part of the skeleton, mostly the pelvis, long bones, and shoulder girdles being. The sites of extraskeletal involvement include: soft tissues, lungs, liver, and spleen. The most severe form of angiomatosis is represented by Gorham–Stout disease (see also GSD). The disease is usually manifested by the age of puberty to the third decade or over the age of 50. The process can be monostotic or polyostotic, and isolated skeletal involvement is very rare. The diagnosis is difficult to establish and partly one of exclusion. Laboratory findings are unremarkable, except increases in alkaline phosphatase (ALP) activity. Histologically GSD may be identical to CA, but GSD causes significantly more destruction with osteolysis and tends to involve one bone only. Clinical symptoms, are poor and include: loss of strength, pain, skin pallor, swelling of the affected area, functional difficulties such as difficulty in walking in the case of involvement of the lower limbs, shortening and bowing of an extremity, and scoliosis. Moreover, the disease can be complicated by vertebral localization or chylothorax. X-rays show lytic lesions that appear to contain residual lamellar bone and foci of reactive woven bone. The bone biopsy is always accompanied by intraosseous non-malignant proliferation of thin vascular structures which results in increased bone resorption. These lesions are, usually, progressively replaced by hypervascular extensive fibrosis. This process can continue for years and may stop spontaneously. Prognosis and complications vary widely depending on the site and extent of bone destruction and the visceral involvement. The typical course of CA is relatively benign, and not incompatible with a long life span; but sometimes there can be a dangerous involvement of vital structures.

The treatments of CA include radiation therapy, surgical procedures, and/or medical therapy (aminobisphosphonates, interferon-a, and calcitonin). However, there is no universally recognized successful treatment.

Phenotype

Multifocal hemangiomatous and/or lymphangiomatous lesions of the skeleton with possible visceral organ involvement.

Main biochemical alterations

High OPG, high OPN, high IL-6, ALP slightly high.

Images

Fig. (a)

Cystic angiomatosis

Fig. (b)

Cystic angiomatosis

Fig. (a) Anteroposterior and (b) lateral radiographs of the tibia and fibula with the characteristic ‘swiss cheese’ appearance of the affected bones

Reproduced from Clayer M, Skeletal angiomatosis in association with gastro-intestinal angiodysplasia and paraproteinemia: a case report. J Orthop Surg (Hong Kong) 2002;10:85-8.


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3. Masi L, Agnusdei D, Bilezikian J et al. Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int. 2015 Jun 13.

4. http://www.omim.org