Gorham-Stout Disease
(GSD)
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“Vanishing” bone diseaseà pathologic fractures, functional issues,
CSF leaks, meningitis, spinal instability, deformity
Effusions
Chronic pain
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PROX-1, D2-40 positive abnormal lymphatics with increased osteoclast
activity and destruction of bone cortex
Mutation: unknown
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Generalized Lymphatic
Anomaly (GLA)
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Multisite lymphatic malformation of soft tissue, viscera (spleen, and
liver common) and bones- bone lesions are multiple and non-contiguous
Effusions
Chronic Pain
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Increased number of dilated anastomosing lymphatic channels, lined by
endothelial cells, stains PROX-1 and D2-40 positive
Mutation: PIK3CA
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Central Conducting
Lymphatic Anomaly
(CCLA)
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Enlarged lymphatic channels/cysts in abdomen and/or thorax
Reflux of lymphatic fluid à pleural and pericardial effusions,
ascites, massive edema
Protein loss
Recurrent infections
Organ dysfunction
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Dilated lymphatic channels-vessels aren’t malformed but are
dysfunctional or distally obstructed
Mutation: EPHB4
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