Fibrous hamartoma of infancy (FHI) is a rare benign tumor that typically affects infants and young children. In this condition, there is an overgrowth of normal tissues in certain parts of the body, leading to the formation of a firm, painless lump or mass.
FHI most commonly occurs in the extremities, such as the arms or legs, but it can also develop in other parts of the body, including the trunk, head, and neck. The tumor is composed of a mixture.
Fibrous hamartoma of infancy (FHI) is a rare benign tumor that typically occurs in children under the age of two. It is characterized by the presence of fibrous tissue, fat, and other cellular components.
Types
FHI can occur in various parts of the body, but it most commonly affects the subcutaneous tissue, which is the tissue beneath the skin.
- Solitary FHI
Solitary FHI is the most common type of FHI. It typically presents as a single, painless lump in the subcutaneous tissue of the extremities or trunk. The size of the lump can vary from a few millimeters to several centimeters. Solitary FHI is usually diagnosed within the first two years of life and tends to grow slowly over time. In most cases, surgical excision is the preferred treatment.
- Multiple FHI
Multiple FHI is a less common form of FHI, which is characterized by the presence of multiple tumors. These tumors can occur in various parts of the body, including the subcutaneous tissue, muscle, bone, and other organs. Multiple FHI is often associated with a genetic condition called neurofibromatosis type 1 (NF1), which is a disorder that affects the nervous system. The treatment of multiple FHI depends on the location and size of the tumors.
- Giant FHI
Giant FHI is a rare form of FHI that is characterized by the presence of a large tumor that can exceed 10 cm in diameter. Giant FHI can occur in various parts of the body, including the extremities, trunk, and head and neck region. Surgical excision is the preferred treatment for giant FHI.
- Infiltrative FHI
Infiltrative FHI is a rare form of FHI that is characterized by the presence of a tumor that infiltrates surrounding tissues. Infiltrative FHI can occur in various parts of the body, including subcutaneous tissue, muscle, bone, and other organs. The treatment of infiltrative FHI depends on the location and extent of the tumor.
- Angiomatous FHI
Angiomatous FHI is a rare form of FHI that is characterized by the presence of a tumor that contains numerous blood vessels. Angiomatous FHI can occur in various parts of the body, including subcutaneous tissue, muscle, bone, and other organs. The treatment of angiomatous FHI depends on the location and extent of the tumor.
Causes
The exact cause of FHI is unknown, but there are several factors that have been linked to the development of this tumor.
- Genetic mutations – Genetic mutations or abnormalities have been identified in some cases of FHI.
- Congenital abnormalities – Some cases of FHI have been associated with congenital abnormalities such as macrosomia (large body size), hydrops fetalis (abnormal accumulation of fluid in the body), and Beckwith-Wiedemann syndrome (an overgrowth disorder).
- Trauma – Trauma or injury to the affected area may be a contributing factor to the development of FHI.
- Abnormalities in fetal development – Abnormalities in fetal development can lead to the development of FHI.
- Hormonal imbalances – Hormonal imbalances, particularly in estrogen and progesterone levels, have been suggested as a possible cause of FHI.
- Inflammation – Inflammation may play a role in the development of FHI, although the exact mechanism is not clear.
- Congenital infections – Congenital infections such as cytomegalovirus have been linked to the development of FHI.
- Abnormalities in connective tissue – Abnormalities in connective tissue may be a factor in the development of FHI.
- Environmental factors – Exposure to certain environmental factors such as radiation may increase the risk of developing FHI.
- Family history – There is some evidence to suggest that FHI may have a genetic component, with some cases occurring in families.
- Abnormalities in cell growth and division – Abnormalities in the way cells grow and divide may contribute to the development of FHI.
- Hormonal changes during pregnancy – Hormonal changes during pregnancy may increase the risk of developing FHI in the fetus.
- Abnormalities in blood vessels – Abnormalities in the development of blood vessels may be a factor in the development of FHI.
- Immune system dysfunction – Dysfunction of the immune system may contribute to the development of FHI.
- Use of certain medications – The use of certain medications during pregnancy may increase the risk of developing FHI.
- Abnormalities in bone development – Abnormalities in the development of bones may be a factor in the development of FHI.
- Abnormalities in nerve development – Abnormalities in the development of nerves may be a factor in the development of FHI.
- Abnormalities in muscle development – Abnormalities in the development of muscles may be a factor in the development of FHI.
- Abnormalities in skin development – Abnormalities in the development of skin may be a factor in the development of FHI.
- Abnormalities in cartilage development – Abnormalities in the development of cartilage may be a factor in the development of FHI.
- Abnormalities in lymphatic vessels – Abnormalities in the development of lymphatic vessels may be a factor in the development of FHI.
- Abnormalities in the development of organs – Abnormalities in the development of organs may be a factor in the development of FHI.
- Abnormalities in the development of the digestive system – Abnormalities in the development of the digestive system may be a factor in the development of FHI.
- Abnormalities in the development of the respiratory system – Abnormalities in the development of the respiratory system may be a factor in the development of FHI.
- Abnormalities in the development of the cardiovascular system – Abnormalities in the development of the cardiovascular system may
Symptoms
Symptoms of FHI in detail.
- Swelling: FHI can cause a noticeable swelling or lump in the affected area. The lump may be firm or soft, and it may grow slowly over time.
- Mass: FHI typically presents as a well-defined mass that is mobile and non-tender. The mass may be located in the trunk, extremities, or head and neck region.
- Nodule: FHI can appear as a small, rounded, solid bump under the skin. The nodule may be flesh-colored or slightly bluish.
- Bulge: FHI can create a bulge or protrusion on the skin surface. The bulge may be visible or palpable.
- Tumor: FHI is a benign tumor that arises from the connective tissue of the body. The tumor can be localized or multifocal.
- Lesion: FHI can cause a lesion or abnormal growth on the skin or soft tissue. The lesion may be raised, flat, or depressed.
- Mass Effect: FHI can exert pressure on adjacent tissues, causing displacement or distortion of normal anatomy. The mass effect can result in functional impairment or cosmetic deformity.
- Asymptomatic: FHI may not cause any symptoms in some cases. The tumor may be discovered incidentally on imaging studies or physical examination.
- Pain: FHI can cause pain in rare cases. The pain may be localized or referred to other areas.
- Redness: FHI can cause redness or erythema in the affected area. The redness may be due to inflammation or vascular congestion.
- Warmth: FHI can cause warmth or heat in the affected area. The warmth may be due to increased blood flow or metabolic activity.
- Edema: FHI can cause edema or swelling due to the accumulation of fluid in the tissues. The edema may be localized or diffuse.
- Bruising: FHI can cause bruising or ecchymosis due to injury or bleeding into the tissues. The bruising may be mild or severe.
- Itching: FHI can cause itching or pruritus in the affected area. The itching may be due to inflammation or irritation of nerve endings.
- Rash: FHI can cause a rash or dermatitis in the affected area. The rash may be due to hypersensitivity or irritation.
- Ulceration: FHI can cause ulceration or erosion of the skin or soft tissue. The ulceration may be due to pressure, trauma, or infection.
- Bleeding: FHI can cause bleeding or hemorrhage in the affected area. The bleeding may be spontaneous or due to injury.
- Drainage: FHI can cause drainage or exudation of fluid or pus from the affected area. The drainage may be due to infection or inflammation.
- Cyst: FHI can contain cystic spaces or cavities filled with fluid or debris. The cysts may be visible in imaging studies or histopathology.
- Calcification: FHI can have calcified areas or foci that appear as radiopaque on imaging studies. The calcification may be due to dystrophic or metastatic calcification.
Diagnosis
It typically presents as a painless mass or lump in the soft tissues of the body, most commonly in the limbs. Here are diagnostic tests and methods used to diagnose FHI:
- Physical exam: A physical exam is the first step in diagnosing FHI. A doctor will examine the lump or mass and ask questions about the child’s medical history and any symptoms they may be experiencing.
- Biopsy: A biopsy involves taking a small sample of tissue from the lump or mass and examining it under a microscope. This is the most reliable way to diagnose FHI.
- MRI: Magnetic resonance imaging (MRI) uses a strong magnetic field and radio waves to produce detailed images of the inside of the body. An MRI can help determine the size and location of the tumor.
- Ultrasound: An ultrasound uses high-frequency sound waves to create images of the inside of the body. It can help determine if the mass is solid or fluid-filled.
- CT scan: A computed tomography (CT) scan uses X-rays and a computer to create detailed images of the inside of the body. It can help determine the size and location of the tumor.
- X-ray: An X-ray uses radiation to produce images of the inside of the body. It can help determine if the tumor is affecting the bones.
- Fine needle aspiration: Fine needle aspiration (FNA) involves inserting a thin needle into the mass to collect a sample of cells. The cells are examined under a microscope to determine if they are cancerous.
- Blood tests: Blood tests can be used to check for certain markers that may be associated with FHI.
- Immunohistochemistry: Immunohistochemistry (IHC) involves using antibodies to identify specific proteins in the tissue sample. This can help confirm the diagnosis of FHI.
- Genetic testing: Genetic testing can be used to check for mutations in specific genes that may be associated with FHI.
- Histology: Histology involves examining the tissue sample under a microscope to determine the type of cells present and the characteristics of the tumor.
- Immunofluorescence: Immunofluorescence involves using fluorescent antibodies to identify specific proteins in the tissue sample. This can help confirm the diagnosis of FHI.
- Polymerase chain reaction: Polymerase chain reaction (PCR) can be used to amplify and detect specific DNA sequences in the tissue sample. This can help confirm the diagnosis of FHI.
- Flow cytometry: Flow cytometry involves analyzing the characteristics of individual cells in the tissue sample. This can help determine if the tumor is cancerous or benign.
- Electron microscopy: Electron microscopy involves using a microscope that uses electrons instead of light to examine the tissue sample. This can provide detailed information about the structure and characteristics of the cells in the tumor.
- Radiography: Radiography involves using X-rays to examine the soft tissue of the body. It can help determine if the tumor is affecting the bones.
- Magnetic resonance angiography: Magnetic resonance angiography (MRA) is a type of MRI that focuses on the blood vessels. It can help determine if the tumor is affecting blood flow.
- Arteriography: Arteriography involves injecting a contrast dye into the arteries to examine the blood vessels. It can help determine if the tumor is affecting blood flow.
- Positron emission tomography: Positron emission tomography (PET) involves injecting a small amount of radioactive material into the body and using a special camera to produce images of the inside of the body. It can help determine if the tumor is cancerous
Treatment
Here are treatments for FHI:
- Observation: In many cases, FHI will resolve on its own without treatment. In these cases, the doctor will simply monitor the tumor and wait to see if it disappears on its own.
- Surgery: If the tumor is causing pain, discomfort, or interfering with bodily functions, surgery may be necessary. The surgeon will remove the tumor, taking care to preserve the surrounding tissue.
- Excision: Another surgical option is excision, where the tumor is removed along with a small amount of surrounding healthy tissue.
- Laser surgery: In some cases, laser surgery may be used to remove the tumor. This is a less invasive procedure and may result in less scarring.
- Cryosurgery: Cryosurgery involves freezing the tumor using liquid nitrogen. This causes the tumor cells to die, and the body will absorb the dead cells over time.
- Radiotherapy: Radiotherapy involves using high-energy radiation to kill cancer cells. While FHI is not cancerous, radiotherapy may be used to shrink the tumor.
- Chemotherapy: Chemotherapy involves using drugs to kill cancer cells. Like radiotherapy, chemotherapy may be used to shrink the tumor.
- Steroids: Steroids can be used to reduce inflammation and swelling around the tumor. This can help relieve pain and discomfort.
- Pain medication: Pain medication can be used to manage any pain or discomfort associated with the tumor.
- Physical therapy: Physical therapy can help improve mobility and range of motion if the tumor is affecting a joint or muscle.
- Occupational therapy: Occupational therapy can help a child learn how to perform daily tasks and activities if the tumor is affecting a limb.
- Massage therapy: Massage therapy can help relieve muscle tension and improve circulation around the tumor.
- Acupuncture: Acupuncture can help relieve pain and improve overall well-being.
- Chiropractic care: Chiropractic care can help improve mobility and relieve pain associated with the tumor.
- Yoga: Yoga can help improve flexibility and relieve stress and tension around the tumor.
- Mindfulness meditation: Mindfulness meditation can help relieve stress and anxiety associated with the tumor.
- Nutrition therapy: Nutrition therapy can help improve overall health and well-being, which may help the body better cope with the tumor.
- Herbal medicine: Herbal medicine may be used to help relieve pain and inflammation associated with the tumor.
- Homeopathy: Homeopathy involves using highly diluted substances to stimulate the body’s natural healing processes. It may be used to help relieve symptoms associated with the tumor.
- Ayurveda: Ayurveda is a traditional Indian system of medicine that uses herbs, massage, and other therapies to promote overall health and well-being. It may be used to help support the body’s natural healing processes.
Medications
- Corticosteroids: Steroids such as prednisone may be used to reduce inflammation and shrink the tumor.
- Nonsteroidal anti-inflammatory drugs (NSAIDs): NSAIDs such as ibuprofen may be used to reduce pain and inflammation.
- Tramadol: A pain medication that can be used to manage moderate to severe pain.
- Acetaminophen: A pain medication that can be used to manage mild to moderate pain.
- Gabapentin: A medication used to treat nerve pain.
- Topical lidocaine: A local anesthetic that can be applied to the skin to reduce pain.
- Methotrexate: A chemotherapy medication that can be used to slow the growth of the tumor.
- Vincristine: A chemotherapy medication that can be used to shrink the tumor.
- Sirolimus: An immunosuppressant medication that can be used to slow the growth of the tumor.
- Interferon-alpha: A medication that can be used to enhance the immune system and slow the growth of the tumor.
- Bevacizumab: A medication that can be used to prevent the growth of blood vessels that supply the tumor.
- Imatinib: A medication that can be used to inhibit the growth of cancer cells.
- Sorafenib: A medication that can be used to inhibit the growth of cancer cells.
- Pazopanib: A medication that can be used to inhibit the growth of cancer cells.
- Everolimus: A medication that can be used to slow the growth of the tumor.
- Nivolumab: A medication that can be used to enhance the immune system and slow the growth of the tumor.
- Ipilimumab: A medication that can be used to enhance the immune system and slow the growth of the tumor.
- Pembrolizumab: A medication that can be used to enhance the immune system and slow the growth of the tumor.
References
