Cystic angiomatosis, a heterogeneous condition

Abstract

Background:Cystic angiomatosis (CA) is a rare disorder causing bony cysts. It displays some similarity to Gorham–Stout disease (GSD), but has a much better local prognosis, despite the larger number of cysts. These 2 conditions also differ in terms of their location, visceral involvement, and response to treatment.Methods:We report 4 cases of CA, including 1 sclerosing form, which we compare with cases from a literature review performed with PRISMA methodology.Results:We reviewed 38 articles describing 44 other patients. Mean age at diagnosis for the 48 patients (our 4 patients + the 44 from the review) was 22.5 years, and 28 of the patients were men. The femur was involved in 81% (n = 39), the pelvis in 73% (n = 35), the humerus in 52% (n = 25), the skull in 48% (n = 23), and the vertebrae in 44% (n = 21). Visceral lymphangiomatosis (either clinical, or detected on autopsy) was also reported in 35% (n = 18) of the patients. The spleen was the most frequently involved organ (n = 12), followed by the lungs and pleura (n = 8). Liver cysts and/or chylothorax were rarely reported (5 cases), but were invariably fatal. Radiation therapy on bone or soft tissue masses was ineffective, as was interferon alpha, in the 2 patients in which this drug was tested. The efficacy of bisphosphonate was at best equivocal.Conclusion:The progression of CA is unpredictable and treatments effective against GSD, such as bisphosphonates and radiotherapy, have proved ineffective for this condition. New treatments are thus urgently required.

Systemic Cystic Angiomatosis Mimicking Metastatic Cancer: A Case Report and Review of the Literature

“…Najm et al recently reviewed the published literature and, including their 4 cases, only 48 patients have been reported in the 36 case reports so far [ 3 ]. Mean age of presentation was 22 years; however bimodal distribution of age has been suggested due to late presentation in some cases [ 3 , 5 – 7 ]. Men seem to be affected more frequently than women [ 4 ].…”

“…Visceral involvement is seen in up to 35% of reported cases. Spleen is the most common organ which is affected in one-fourth of cases [ 3 ]. Other sites include skin and soft tissues, thymus, liver, kidneys, mediastinum, and mesentery.…”

“…To the best of our knowledge, we are reporting the index case of thyroid involvement in SCA. The complications include bony pains, pathological fractures, deformities, splenic rupture, chylothorax, and spinal cord compression [ 3 , 4 , 12 ]. Alkaline phosphatase has been reported as elevated in few reports due to extensive lytic osseous lesions; however it has been reported normal in many other reports including in this patient [ 13 ].…”

“…This discrepancy is most likely due to the inhibition of osteoblastic differentiation by the aggressive lymphangiomatosis which also explains the lack of a sclerotic rim around the cysts in this patient. The sclerosing form has been reported in elderly patients in the previous cases and osteolysis was more common in the younger patients [ 3 ]. However this patient presented with lytic bony lesions in her 6th decade of life.…”

“…Its pathology most likely represents a maldeveloped vascular and/or lymphatic system [ 2 ]. Most of the patients present around puberty [ 3 ]. Herein we describe a rare case of SCA with late presentation in whom the disease first manifested after 4th decade with recurrent lymphangiomas but the full-blown disease presented only after 6th decade mimicking a metastatic cancer.…”