Know the Rare Disease, Hamartoma Lymphangiomatosis

Hamartoma is a name derived from two words: hamartia and oma, in hamartian Greek meaning "error, defect" and oma, signifies a tumor or neoplasma. Hamematoma is a malignant growth of benign tissue (not cancer) consisting of an abnormal mixture Cells and tissues found in certain body areas. It is considered an error of cell development and can occur in a number of areas of the body. Non-neoplastic masses may also appear in this way. Therefore, misdiagnosis may occur, and excessive therapy due to misdiagnosis may also occur.

Various scientific literature describes several examples of hamartomas, including the following:

Hemangioma and other blood vessel tumors that are not neoplasms
Peutz-Jeghers intestinal polyp
Colon polyps
Bronchial Hamartoma
The melanocytic naevi
Neurofibromatosis in von Recklinghausen's disease
Neuroepithelial cells in tuberous sclerosis
Hamartoma of the hypothalamus and cinereum tuber
Various bone hamartomas

Lymphangiomatosis is a condition that affects the lymph nodes, commonly found accidentally associated with unprovoked fractures, soft tissue enlargement, or tissue buildup. This condition is a very rare condition, and patients are usually newly discovered at the age of five. The condition of lymphangiomatosis can be accompanied by a condition of hemangiomatosis, where in addition to lymph nodes, there are abnormalities also in the blood vessels. This condition can affect any body area.

This disease does not tend to be inherited in the family. The prevalence of hamartoma lymphangiomatosis is still unknown because the diagnosis is often unreadable, or found accidentally. Patients with this condition also often do not complain of anything, however, there are also complaining of pain, swelling in the affected body part, and there is a broken bone for no apparent reason (no banging whatsoever).

Diagnosis

X-ray examination: Bone with lymphangiomatosis will show a vertical line which means there is trabecular thickening of the bone, in addition, can be obtained a picture like a honeycomb (honeycomb apperance).
CT-scan: CT scan shows a rough bony appearance.
MRI checks, both T1 and T2: increased signal intensity. MRI is the standard criterion for investigating hemangiomas and lymphangiomas.
Angiogram examination: the presence of a blood vessel bulge.
Radionuclide bone scan: does not always yield positive results; However, it can find some lesions.
Lymphography: often shows abnormal and widened lymph vessels filling bone lesions

Management

In patients with hamartoma lymphangiomatosis, the lesions may regress, and surgical intervention is not necessary. When treatment is needed, however, it usually involves curettage, grafting, and irradiation. Surgery may be necessary to treat pathologic fractures or bone deformities.

Because hemangiomatosis and lymphangiomatosis are rare, each patient should be evaluated and treated individually, with their own prognosis.

Bone hemangioma. This radiology of the spine shows a vertical thickening of the trabeculae.