Lymphangiomatosis is a condition where a lymphangioma is not present in a single localised mass, but in a widespread or multifocal manner. It is a rare neoplasm which results from an abnormal development of the lymphatic system. This may involve one or several organs.
Lymphangiomatosis is sometimes represented under the eponym Gorham's disease (GD), vanishing / disappearing bone disease, Gorham-Stout syndrome, idiopathic / progressive massive osteolysis, essential osteolysis, phantom bone disease, essential osteolysis, and combinations of the previous. Not all patients with lymphangiomatosis have Gorham's - leaving physicians diagnosing patients with this disease unsure of the correlation between the two names. Patients reported with Gorham's appear to have lymphangiomatosis along with their GD diagnosis - whereas there are a number of patients with the single diagnosis of lymphangiomatosis (without the boney involvement).
Lymphangiomatosis should not be confused with lymphangioleiomyomatosis (LAM), which is a disease resulting from the proliferation of a cell type in the lymphatics that is similar (phenotypically) to a smooth muscle cell.
The two diseases have the potential of being confused. Lymphangiomatosis in comparison to LAM is frequently diagnosed in infants and children of both genders, whereas LAM is primarily a disease found in women of child-bearing age.
Both diseases are known to be fatal. As the numbers of patients reported with lymphangiomatosis increases - the number of patients who survive more than 10 years is higher - giving greater hope to patients newly diagnosed.
This disease is a chronic, life-altering, rare disease that leaves patients and their families feeling lost and alone. Research is key in learning more about this terrible disease and finding treatments and potentially a cure.
Physicians treating patients also are handicapped in their treatments for a lack of resources of information.
Patients and physicians no longer need to feel alone in their journey to conquer the disease as The LYMF Foundation  is now available - creating a network for patients and physicians as well as hope for furthering research to learn more about the disease and to discover effective treatments and ultimately a cure for lymphangiomatosis.
Signs and symptoms
Lymphangiomatosis can present with shortness of breath. Pericardial or pleural effusion can also be a symptom. The fluid involved in these effusions is chylous (milky type fluid) in nature. Lymphangiomatosis can involve tissues like the lung. It is also known to affect all other organs.
Lymph vessels growing into bones known as Gorham's Disease(may cause pathological fractures, and acute or chronic pain. In children it may cause bone deformity. When detected early, radiographic evidence of decreased bone mass can be found. All patients with do not have the boney involvement which leads to the question "Is Gorham's Disease the same as Lymphangiomatosis or are they two separate rare diagnoses that can accompany each other in some patients.
Very little is known of these diseases and no formal research has been conducted in patients with this diagnosis. Case reports are the primary format of all publications regarding lymphangiomatosis/Gorham's Disease. The number of patients is not known.
At present, the LYMF Foundation has pulled together a total of 55 patients around the world with this diagnosis. The number of cases reported is a gross misrepresentation of the number of patients with this disease. With the increasing availability of the Internet - this problem should improve.
To report newly diagnosed cases or cases not already reported - contact The LYMF Foundation at http://lymf.org to help provide validated vital statistical information not currently available.
There is no current standard for diagnosing this condition. The symptoms, clinical presentation, and typical radiographical findings can assist in the diagnosis. A biopsy is the ultimate method for diagnosis - but is not always possible.