Non-involuting congenital hemangiomas (NICH) are a type of vascular birthmark that occurs when the blood vessels do not form properly during fetal development. These birthmarks can be categorized into two types: rapidly involuting congenital hemangiomas (RICH) and non-involuting congenital hemangiomas (NICH). Unlike RICH, which shrinks and disappears within a few months of birth, NICH do not regress and often require treatment to manage their growth and associated symptoms.
NICH are rare, accounting for only 2% of all hemangiomas. They typically appear as a reddish-purple or blue-colored patch on the skin and can vary in size from a few millimeters to several centimeters. NICH can occur anywhere on the body, but is most commonly found on the head and neck region.
Types
There are three subtypes of NICH:
- Superficial NICH – This subtype appears as a flat, reddish-purple patch on the skin. It is usually small in size, measuring less than 2 cm in diameter. Superficial NICH is the most common subtype of NICH.
- Deep NICH – This subtype appears as a raised, bluish-purple mass on the skin. It is usually larger in size, measuring more than 2 cm in diameter. Deep NICH can extend into the underlying tissues and organs, causing potential complications.
- Combined NICH – This subtype is a combination of both superficial and deep NICH.
Causes
Potential causes of NICH.
- Genetic mutations: Some cases of NICH have been linked to genetic mutations that affect the development of blood vessels. These mutations can occur spontaneously or be inherited from a parent.
- Prenatal exposure to certain medications: Exposure to certain medications during pregnancy has been associated with an increased risk of NICH. These medications include propranolol, corticosteroids, and interferon.
- Prenatal exposure to toxins: Exposure to certain toxins during pregnancy, such as alcohol and tobacco, may increase the risk of NICH.
- Infection during pregnancy: Certain infections during pregnancy, such as cytomegalovirus and rubella, have been associated with an increased risk of NICH.
- Maternal illness during pregnancy: Certain maternal illnesses during pregnancy, such as diabetes and hypertension, have been linked to an increased risk of NICH.
- Premature birth: Premature infants may have an increased risk of developing NICH, possibly due to incomplete development of blood vessels.
- Low birth weight: Infants with a low birth weight may be at an increased risk of developing NICH.
- Multiple gestations: Infants from multiple gestations, such as twins or triplets, may have an increased risk of NICH.
- Assisted reproductive technology: Infants conceived through assisted reproductive technology may have an increased risk of NICH.
- Maternal age: Infants born to older mothers may be at an increased risk of NICH.
- Male gender: NICH appears to be more common in males than females.
- Family history: NICH may run in families, suggesting a genetic component.
- Abnormal placental development: Abnormal development of the placenta may increase the risk of NICH.
- Abnormal fetal blood vessel development: Abnormal development of the fetal blood vessels may increase the risk of NICH.
- Abnormal angiogenesis: Abnormal angiogenesis, or the formation of new blood vessels, may contribute to the development of NICH.
- Abnormalities in the immune system: Some research suggests that abnormalities in the immune system may play a role in the development of NICH.
- Abnormalities in the coagulation system: Abnormalities in the coagulation system, which is responsible for blood clotting, may contribute to the development of NICH.
- Hormonal imbalances: Hormonal imbalances, such as those that occur during puberty, may trigger the growth of NICH.
- Trauma: Trauma to the affected area may trigger the growth of NICH.
- Unknown factors: In some cases, the cause of NICH is unknown.
Symptoms
Symptoms that are commonly associated with NICH, along with an explanation of each symptom in detail:
- Red or purple discoloration: The affected area may have red or purple discoloration due to the increased blood flow in the blood vessels. This discoloration may be more prominent in the first few weeks of life and may fade over time.
- Raised or flat lesion: The affected area may have a raised or flat lesion, depending on the type of NICH. There are two types of NICH: rapidly involuting congenital hemangioma (RICH) and non-involuting congenital hemangioma (NICH). RICH is a type of NICH that grows rapidly in the first few months of life and then involutes (shrinks) over time. It may appear raised initially but may become flat over time. NICH, on the other hand, does not involute and may remain raised or flat throughout life.
- Blistering: In some cases, the affected area may develop blisters due to fragile blood vessels.
- Ulceration: The affected area may develop ulcers due to the fragile blood vessels. Ulcers are open sores that can be painful and may increase the risk of infection.
- Swelling: The affected area may be swollen due to the increased blood flow in the blood vessels.
- Bruising: The affected area may bruise easily due to fragile blood vessels.
- Rapid growth: In some cases, the NICH may grow rapidly in the first few months of life.
- Slow growth: In other cases, the NICH may grow slowly over time.
- Large size: NICH can vary in size from a few millimeters to several centimeters in diameter.
- Multiple lesions: Some individuals may have multiple NICs.
- Location: NICH can occur on any part of the body, but they are more common on the head and neck.
- Associated syndromes: Some individuals with NICH may have associated syndromes, such as PHACES syndrome, which is a neurocutaneous syndrome that involves the brain, eyes, heart, and blood vessels.
- Vision problems: In some cases, NICH may affect vision if it is located near the eye.
- Hearing problems: In rare cases, NICH may affect hearing if it is located near the ear.
- Breathing problems: In rare cases, NICH may affect breathing if it is located near the airway.
- Cardiac problems: In rare cases, NICH may be associated with cardiac problems.
- Neurological problems: In rare cases, NICH may be associated with neurological problems, such as seizures.
- Pain: NICH may be painful, especially if it is ulcerated.
- Disfigurement: NICH may cause disfigurement if it is located in a visible area.
- Emotional distress: NICH may cause emotional distress, especially if it causes disfigurement or affects vision or hearing.
Diagnosis
Diagnostic tests and procedures used to diagnose and evaluate NICH.
- Physical examination: The first step in diagnosing NICH is a thorough physical examination. The doctor will inspect the lesion, looking for features such as size, color, texture, location, and any signs of growth or change over time. The doctor will also ask about any associated symptoms or medical history.
- Imaging studies: Imaging studies such as ultrasound, MRI, and CT scan can help determine the extent and location of the hemangioma. They can also help identify any associated abnormalities or complications such as high-flow arteriovenous malformations or obstructive lesions.
- Biopsy: A biopsy involves taking a small sample of tissue from the lesion and examining it under a microscope. This can help confirm the diagnosis and rule out other possible causes of the lesion.
- Histopathology: Histopathology involves the examination of the tissue under a microscope. This can reveal the characteristic features of NICH, such as clusters of endothelial cells with thin-walled blood vessels and minimal stroma.
- Immunohistochemistry: Immunohistochemistry involves staining the tissue samples with antibodies that can identify specific proteins and cells. This can help differentiate NICH from other types of vascular tumors.
- Genetic testing: Genetic testing can be used to detect any underlying genetic abnormalities that may be associated with NICH, such as mutations in the AGGF1 gene.
- Blood tests: Blood tests may be performed to check for any associated abnormalities or complications, such as anemia or coagulation disorders.
- Electrocardiogram (ECG): An ECG can help detect any associated heart abnormalities or arrhythmias.
- Echocardiogram: An echocardiogram uses ultrasound to evaluate the structure and function of the heart. This can help detect any associated abnormalities such as high-output heart failure.
- Pulmonary function tests: Pulmonary function tests can evaluate lung function and detect any associated respiratory abnormalities such as airway obstruction.
- Endoscopy: Endoscopy involves inserting a flexible tube with a camera into the body to examine the internal structures. This can be useful in evaluating NICH located in the airway or digestive tract.
- Angiography: Angiography involves injecting a contrast dye into the blood vessels and taking X-rays to visualize the blood vessels. This can help identify any associated abnormalities or complications such as high-flow arteriovenous malformations.
- Doppler ultrasound: Doppler ultrasound uses sound waves to evaluate blood flow through the blood vessels. This can help detect any associated abnormalities such as blood clots or vascular obstruction.
- Magnetic resonance angiography (MRA): MRA is a type of MRI that specifically evaluates the blood vessels. This can help identify any associated abnormalities or complications such as high-flow arteriovenous malformations.
- Computed tomography angiography (CTA): CTA involves injecting a contrast dye into the blood vessels and taking X-rays to visualize the blood vessels. This can help identify any associated abnormalities or complications such as high-flow arteriovenous malformations.
Treatment
Treatments for non-involuting congenital hemangiomas, including their advantages and disadvantages.
- Observation and monitoring – One of the simplest treatments for NICHs is to simply observe and monitor the hemangioma. In many cases, NICHs will not require treatment and may even shrink or disappear on their own over time. Observation and monitoring may be recommended for small, asymptomatic hemangiomas that are not causing any functional or aesthetic concerns.
- Topical beta-blockers – Topical beta-blockers, such as timolol, have been shown to be effective in treating NICHs. These medications work by blocking the action of certain hormones that promote blood vessel growth. Topical beta-blockers are generally safe and easy to use, and can be applied directly to the surface of the hemangioma. However, they may not be effective for larger or deeper hemangiomas.
- Oral beta-blockers – Oral beta-blockers, such as propranolol, have also been shown to be effective in treating NICHs. These medications work by reducing the blood flow to the hemangioma and inhibiting the growth of blood vessels. Oral beta-blockers are generally safe and effective but may cause side effects such as low blood pressure and slow heart rate.
- Topical imiquimod – Topical imiquimod is a medication that is used to treat certain types of skin conditions, including NICHs. This medication works by stimulating the body’s immune system to attack and destroy abnormal cells, including the cells that make up the hemangioma. Topical imiquimod may be effective for smaller hemangiomas, but may not be effective for larger or deeper lesions.
- Intralesional corticosteroids – Intralesional corticosteroids, such as triamcinolone acetonide, are medications that are injected directly into the hemangioma. These medications work by reducing inflammation and inhibiting the growth of blood vessels. Intralesional corticosteroids may be effective for smaller hemangiomas, but may not be effective for larger or deeper lesions. Additionally, this treatment may cause side effects such as skin atrophy and discoloration.
- Embolization: This treatment involves injecting a substance into the blood vessels of the tumor to block blood flow and cause the tumor to shrink. Embolization is typically used for larger NICHs that cannot be surgically removed.
- Surgical excision: This treatment involves surgically removing the tumor. Surgical excision is usually reserved for larger NICHs that are causing complications such as obstruction of airways or organs.
- Radiotherapy: This treatment involves using high-energy radiation to destroy the blood vessels in the tumor. Radiotherapy is typically used for larger NICHs that cannot be surgically removed.
- Interferon: This medication is an immunomodulator that is used to treat certain types of cancer and viral infections. Interferon can also be used to treat NICHs by inhibiting the growth of blood vessels in the tumor. This treatment is typically used in combination with other therapies.
- Topical timolol: This medication is a beta-blocker that is used to treat glaucoma. Topical timolol can also be effective in treating small NICHs by reducing blood flow to the tumor.
- Vincristine: This medication is a chemotherapy drug that is used to treat certain types of cancer. Vincristine can also be effective in treating NICHs by inhibiting the growth of blood vessels in the tumor. This treatment is typically used in combination with other therapies.
- Photodynamic therapy: This treatment involves using a photosensitizing agent and a light source to destroy the blood vessels in the tumor. Photodynamic therapy is typically used for smaller NICHs that are located on
- Laser therapy – Laser therapy is a non-invasive treatment that uses a focused beam of light to destroy the blood vessels that make up the hemangioma. Laser therapy may be effective for smaller hemangiomas, but may not be effective for larger or deeper lesions. Additionally, this treatment may cause scarring and discoloration.
- Cryotherapy – Cryotherapy is a treatment that uses extreme cold to destroy the blood vessels that make up the hemangioma. This treatment may be effective for smaller hemangiomas, but may not be effective for larger or deeper lesions. Additionally, this treatment may cause scarring and discoloration.
- Sclerotherapy – Sclerotherapy is a treatment that involves injecting a solution directly into the blood vessels that make up the hemangioma. This solution causes the blood vessels to shrink and eventually collapse, reducing the size of the hemangioma. Sclerotherapy may be effective for larger or deeper hemangiomas but may cause scarring and discoloration.
References
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