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Hamartoma: Causes, Symptoms, Location, Diagnosis And Treatment

Aug 25, 2023

Hamartoma: Causes, Symptoms, Location, Diagnosis And Treatment

A hamartoma is a benign (noncancerous) mass or growth that is made up of the same types of cells as the area of your body where it first appears. The cells that form a hamartoma grow haphazardly, in contrast to the cells in the surrounding tissue. An aberrant, yet unharmful, tumor-like mass is created when these cells group together.

Hamartoma is made up of two Greek words:

  • "Hamartia," which is Latin for a blemish or defect.
  • "Oma," which is a Japanese word for tumour.

An example of a specific benign (noncancerous) tumour is a hamartoma. When an aberrant cell clusters together, it becomes a solid mass known as a tumour. Benign or malignant (cancerous) tumours are both possible.

The fact that the clumping cells are identical to those in the surrounding healthy tissue is what distinguishes a hamartoma from other tumours. A hamartoma's normal cells develop abnormally together.


Causes Of Hamartoma

Hamartoma growths typically occur sporadically and have no known specific aetiology. The following additional conditions are linked to these benign growths:

  • You could have additional fingers or toes if you have Pallister-Hall syndrome, a hereditary condition that impairs physical development.
  • Multiple benign growths appear as a result of Cowden syndrome.
  • Tuberculous sclerosis

Symptoms Of Hamartoma

The majority of hamartomas are asymptomatic, which indicates that they don't produce symptoms. When they do produce symptoms, it's typically because the hamartoma has spread into the tissue around it. If you do experience symptoms, they will typically be related to the area of your body where the hamartoma has developed.

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Locations Where Hamartoma Can Occur

Anywhere in your body can develop hamartomas. The most frequent places are:

  • Lungs: The most typical location for hamartomas to develop. All benign lung nodules (growths) that are hamartomas are about 10% of them.
  • Skin: Skin hamartomas commonly develop on the head and neck, particularly the face, lips, and area surrounding the ears.
  • Heart: A cardiac rhabdomyoma is a rare hamartoma that is most frequently found in pregnant women or young children. They are the most typical paediatric cardiac tumour even though they are generally uncommon.
  • Brain: In the hypothalamus, a region of the brain that regulates and maintains the stability of vital bodily functions, hypothalamic hamartomas develop. They are already present at birth and are typically identified during childhood and adolescence. Seizures, visual issues, and precocious (early) puberty are just a few of the signs and symptoms of hypothalamic hamartomas.
  • Breast: Hamartomas account for approximately 5% of benign breast lumps. Over 35-year-old women and those born with a gender preference are more likely to experience them.
  • You can develop hamartomas in your kidneys, spleen, thyroid gland, bones, or other body parts if you have specific diseases, such as PTEN hamartoma tumour syndrome (PHTS).

What Conditions Are Associated With Hamartoma?

Hamartomas are linked to a number of uncommon genetic disorders. Gene mutations (changes) under certain circumstances may result in the development of hamartomas.

  • Pallister-Hall syndrome (PHS): GLI3 gene mutations have been linked to PHS. PHS affects about 5% of those who have hypothalamic hamartomas.
  • Tuberous Sclerosis: Hamartomas can develop in your brain, heart, kidneys, skin, eyes, and other organs and bodily systems as a result of tuberous sclerosis.
  • Neurofibromatosis type 1: Hamartomas can develop on nerves all over your body as a result of the rare hereditary disorder known as neurofibromatosis type 1 (NF1).
  • PTEN hamartoma tumour syndrome (PHTS) is a set of diseases caused by a mutation in the PTEN gene. Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome (BRRS) are subtypes.
  • Hamartomas can develop in a variety of organs and impact a number of bodily functions, including your skin, GI tract, thyroid, breasts, and uterus.
  • PJS, or Peutz-Jeghers syndrome, is brought on by a mutation in the STK11/LKB1 gene. You are more likely to get hamartomas in your lungs, stomach, bladder, small intestine, colon, and rectum if you have PJS.

Diagnosis Of Hamartoma

Since the majority of hamartomas are asymptomatic, medical professionals typically discover them while imaging a different condition. Depending on where a hamartoma is placed in your body, diagnosing one might be difficult because it may resemble malignant tumours.

To ascertain whether a tumour is a hamartoma, your doctor will do a physical examination and inquire about your medical history. To be sure, you'll frequently need further images.

The following diagnostic exams are available:

  • X-rays: Low-dose radiation is used in X-rays to provide images of the soft tissues and bones. On X-rays, lung hamartomas sometimes have a "popcorn" look that helps to identify them from malignant masses.
  • Ultrasound: Produces images of the soft tissue inside your body by using sound waves.
  • Computed tomography - Multiple X-rays are taken of your body's soft tissue and bones during a computed tomography (CT) scan. Particularly helpful in the diagnosis of lung hamartomas are CT scans.
  • MRI- A powerful magnet and radio waves are used in magnetic resonance imaging (MRI) to produce precise images of the soft tissue within your body.
  • Low-dose radiation is used in mammograms to show the tissue inside your breast. The majority of breast hamartomas are discovered during cancer screening mammography.
  • Biopsy- A doctor performs a biopsy by removing a portion of the tumour. A pathologist, a distinct type of healthcare professional, examines the cells under a microscope. A biopsy can assist in identifying if a tumour is formed of cancerous or benign cells, as in the case of a hamartoma.

Your symptoms and the location of the mass will determine how you should be treated. Your healthcare professional can decide to monitor it rather than treat it if it's not creating any problems. The most usual therapy is surgery if it's producing symptoms or if your doctor can't rule out malignancy.

Treatment Of Hamartoma

Lung hamartoma removal procedures include:

  • Wedge Resection: The hamartoma and a short margin of surrounding normal tissue are removed together with a wedge-shaped slice of tissue.
  • A lobectomy removes the lung lobe that the hamartoma is located in. There are three lobes on the right side of your lung. There are two lobes on the left.
  • A complete lung is removed during a pneumonectomy. Rarely are hamartomas bad enough to require this

There are several methods for removing hypothalamic hamartomas:

  • Resection Surgery: The tumour is excised (removed) by the surgeon.
  • Ablation: To eliminate the tumour, a surgeon employs a laser or extremely high heat.
  • GammaKnife radiosurgery: A radiation oncologist uses strong energy beams to target and remove your tumour. With no incisions, radiosurgery differs from conventional surgery. It is actually a type of radiation therapy that removes damaged tissue precisely, much like surgery.

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