Hamartoma: A Teratoma Syndrome?
A teratoma syndrome is a term used to describe a group of diseases caused by abnormal development or growth of cells within the body. These conditions are generally not life threatening but they may cause health problems such as cancer, birth defects, developmental delays and other physical abnormalities.
The word “teratoma” comes from the Greek words meaning “growth.” Some types of tumors grow rapidly while others remain stable over time.
For example, some cancers do not change much in size during their lifetime. Other types of tumors grow slowly over time until they become large enough to affect normal cell function and kill the patient.
Teratomas are usually benign (non-cancerous) growths that occur in one part of the body only. They include kidney stones, blood clots, cysts and tumors in other organs such as the lungs or heart.
Some types of teratomas are known as congenital disorders. These are diseases that develop before birth.
Congenital disorders often have no obvious cause and may result from random genetic mutations. Other types of teratomas are called acquired disorders. Acquired disorders arise after birth when a person inherits a condition from another family member or through infection with certain viruses or bacteria. Some acquired disorders cannot be inherited; they must be passed down genetically between generations.
The term “syndrome” describes a complex of symptoms that appear together. For example, Down syndrome is an inherited condition caused by the presence of an extra 21st chromosome.
Another example is Prader-Willi syndrome, which is a congenital disease caused by a lack of genetic material on the 15th chromosome.
A teratoma syndrome occurs when a group of teratomas form in the same part of the body. This condition usually affects infants and young children.
Teratomas rarely occur after puberty. Tumors or growths in different parts of the body are not considered part of a teratoma syndrome.
The word “hamartoma” comes from the Greek words meaning “developmental error.”
A hamartomatous condition occurs when normal cells grow in a place where they don’t belong. Like teratomas, hamartomatous conditions begin in utero.
A hamartoma may be benign (not cancer) or malignant (cancer).
For example, a renal cell carcinoma is a type of cancer that begins in the kidney. A congenital nevus is not cancer, but a nevus (or mole) that you are born with.
Both of these conditions are hamartomatous.
A hamartoma can appear at any age and usually does not go away. In fact, it may grow larger over time.
Sometimes hamartomatous conditions appear to go away, but they do not.
For example, a ganglioneuroma is a benign tumor of the nerve cells. This condition tends to occur in infants and young children.
Over time the tumor often shrinks or dissapears. Although no tumor is visible, microscopic amounts of ganglioneuroma still exist and are detectable with special tests.
Neurofibromatosis is a term that describes a group of inherited disorders that affect the skin, nervous system and bones. The term comes from the word “neurofibroma” which is a benign tumor of the peripheral nerves.
Neurofibromatosis can cause lumps to form on or just under the surface of the skin. These lumps are also called “dermatofibromas.”
There are 3 types of neurofibromatosis:
Type 1 (also known as von Recklinghausen disease) affects 1 person in 3,000. It causes tumors to form on the nervous system and usually begins before a person is 20 years old.
These tumors often cause problems with vision, hearing, and balance. Neurological problems also occur.
Type 2 (also known as neurofibromatosis I, schwannomatosis, and neurofibroma variatum) affects 1 person in 36,000. This condition causes tumors to form on the peripheral nerves.
These tumors usually appear after a person is 5 years old.
Type 3 (also known as NF2, schwannomatosis II, and neurofibromatosis II) affects 1 person in 25,000. It causes tumors to form on the nerves of the spinal cord.
These tumors usually appear before a person is 20 years old.
Retinoblastoma is a cancer of the eye. It usually affects infants and young children.
Retinoblastoma is the most common type of eye cancer in children. More than 1,000 new cases are diagnosed each year in the United States. About 70% of these cancers occur in children under the age of 4. Most of the remaining cases occur in children between the ages of 4 and 8.
There are 2 types of retinoblastoma:
Retinal embryonic tumors occur during infancy. Retinal neoplasms occur at any age, even in children over 8 years old.
The most common symptom of retinoblastoma is a white or red eye. The pupil of the eye may also appear to have a “cataract.” Most infants with this condition are blind in that eye.
A child with retinoblastoma in only 1 eye can usually see from the other eye.
The white part of the eye has an orange color in it (caused by bleeding).
Vision loss in 1 eye.
Blood in the eye (caused by a vessel growing into the retina).
Tumor grows into the visual field of one or both eyes.
Night blindness (a decreased ability to see in low light).
Sources & references used in this article:
Pulmonary hamartoma by CP Hansen, H Holtveg, D Francis, L Rasch… – The Journal of Thoracic …, 1992 – Elsevier
Pulmonary hamartoma: CT findings. by SS Siegelman, NF Khouri, WW Scott Jr, FP Leo… – Radiology, 1986 – pubs.rsna.org
Multiple hamartoma syndrome (Cowden’s disease) by PE Weary, RJ Gorlin, WC Gentry… – Archives of …, 1972 – jamanetwork.com
Endobronchial hamartoma by BG Cosio, V Villena, J Echave-Sustaeta, E de Miguel… – Chest, 2002 – Elsevier
Splenic hamartoma by ML Silverman, VA Livolsi – American Journal of Clinical …, 1978 – academic.oup.com