Infantile Myofibromatosis: Causes, Symptoms, Complications, And Treatment

Infantile Myofibromatosis is a rare disease in which there is a growth of benign tumors in the skin, bones, muscles, and soft tissues. The formation of these non-cancerous tumors rarely affects visceral organs. The number of the tumors, as well as their location, is variable in different persons and so are the severity and symptoms related to them.

Infantile Myofibromatosis tumors are non-cancerous, hence do not show metastasis. These tumors can grow larger in size and compress the surrounding organs leading to their damage. The disease is most commonly seen to develop in infants and young children, but adult age groups are also affected.

The causes are random in most of the cases while a few ones are related to genetic mutations. The treatment plan of this rare condition is decided on the basis of the location of the tumors. Recurrence is also there in many cases.

Summary: Infantile Myofibromatosis belongs to a rare group of diseases involving the formation of non-cancerous tumors in the superficial as well as visceral organs of the body. These are curable by spontaneous remission or by certain treatment methods.

The onset of Infantile Myofibromatosis is more common during infancy or late childhood. The growth of benign tumors may continue throughout life and the symptoms can vary from person to person. Some of the symptoms include:

• The appearance of lesions or bumps: The tumors appear in the form of lesions or nodules on the skin surface or beneath the top layer of skin. These are present as firm and fleshy, purple-colored bumps.
• Freely movable or immovable nodules: These are freely movable when present superficially but remain immobile when present in the deeper section.
• Indurated consistency of the tumors: The tumors or lesions are present as a crusted layer usually purplish or reddish in color, over the skin surface.
• Tenderness not present: The non-cancerous tumors present in this condition remain non-tender usually.
• Damage and distortion to the bones: The continuous growth of the tumour can cause bones to become damaged and distorted.
• Pain due to nerve compression: Due to enlargement in size of the tumors, Nerve compression may occur and cause pain.

Summary: Infantile Myofibromatosis is accompanied by the appearance of purple-colored, indurated, firm, or fleshy bumps in the skin. These lesions are non-tender but can be related to pain due to nerve compression.

Important causes related to the occurrence of Infantile Myofibromatosis include the following:

• Acquired cause: Infantile Myofibromatosis develops spontaneously in most cases. No family history of the disease is found in such cases. The disease is not present from birth and is acquired in later stages of infancy or childhood. The exact cause is not known in such cases.
• Genetic cause: Infantile Myofibromatosis is rarely related to genetic causes. Gene mutations are responsible for this in such cases. The mutations are seen especially in two genes, namely platelet-derived growth factor receptor beta gene and neurogenic locus notch homolog protein 3 genes.

Summary: Infantile Myofibromatosis is either acquired in infancy or childhood or related to the genetic cause. It is more commonly developed spontaneously and rarely has a genetic cause.

The diagnosis of Infantile Myofibromatosis is an important step and should be done under the supervision of a specialist. Important steps include the following:

• Physical examination: In this step, the patient is examined carefully to check for any physical signs related to the occurrence of tumors in a specific region.
• Tissue examination: The affected area having the development of benign tumors undergo a microscopic examination of its tissues to know about the tumors.
• Imaging techniques: This usually involves ultrasound and MRI of the affected individuals to check the growth and progression of the tumors. These imaging procedures also help in the evaluation of the size and severity of the lesions along with their recurrence.
• DNA testing: Also referred to as Molecular genetic testing, this procedure involves DNA testing of the blood sample of the affected individuals. This is a confirmatory test that detects genetic mutations.

Summary: The diagnosis of Infantile Myofibromatosis is an important step involving physical examination, tissue examination, imaging procedures as well as DNA testing. The treatment and prognosis depend upon the proper diagnosis of the condition.

The cause of Infantile Myofibromatosis includes genetic mutations in a few cases when a family history of disease is present. The cause is unknown when the disease is acquired in the later stages of infancy or childhood. Its prevention is not possible in both types of cases.

Summary: The prevention of Infantile Myofibromatosis has not been possible so far. The disease may be acquired or have a genetic cause related to mutations, hence there is no way to prevent the condition.

On experiencing any symptoms related to Infantile Myofibromatosis, the first important thing we should do is to consult a physician regarding the disease. A proper diagnosis should be done by performing a physical examination, tissue examination, and required imaging procedures. It is followed by a proper treatment strategy and a better prognosis.

Summary: On encountering any of the symptoms related to Infantile Myofibromatosis, diagnosis is the first important thing to do. It is followed by a proper treatment plan and prognosis.

Certain cases of Infantile Myofibromatosis get resolved on their own without undergoing any specific treatment procedures. This is known as Spontaneous remission. Such cases do not involve visceral or internal organs and hence related symptoms are not problematic.

The initial treatment method involves just waiting and watching the condition. The patient is not provided with any kind of actual treatment till the time the disease progresses.

The treatment of Infantile Myofibromatosis involves mainly symptomatic treatment based upon the specific symptoms. It should be done with a well-coordinated effort of a team of specialists including paediatricians, dermatologists, orthopaedic surgeons, etc. important treatment methods include the following:

• Surgical method: This is the method preferred in most cases of Infantile Myofibromatosis. It is the best way to prevent any complications and to get a better prognosis.
• Chemotherapy: This is done in severe cases involving the internal organs. This is mostly preferred when surgical methods fail or are not suitable to be done.
• Genetic counseling: This is done in the cases when a family history of the disease is present. Genetic mutations are the cause of its occurrence. Affected individuals and their families are provided with psychosocial support.

Summary: The treatment methods of Infantile Myofibromatosis involve an asymptomatic line of treatment based upon the symptoms. Surgery, chemotherapy, and genetic counseling are important ways to treat the condition.

Food plays an important role in recovering from conditions like Infantile Myofibromatosis. Some of the food items to be preferred include:

• Sources of essential vitamins and minerals: Foods rich in essential vitamins and minerals are important to be consumed in such conditions. These may include Dried fruits like almonds, walnuts, anjeer, etc.
• Fresh fruits and vegetables: These include fresh fruits such as oranges, pomegranate, pineapple, kiwi, apples, etc. which provide us with essential nutrients. Vegetables, especially green and leafy vegetables including broccoli, spinach, cabbage are also good for fulfilling the requirements in such conditions.
• Low fat-containing foods: These include dairy products such as low-fat milk or cheese.
• Foods rich in low sugar content: These include avoiding sugary beverages and eatables.
• Food rich in high-density lipids: These are healthy fats and can be consumed in such conditions.

It is important to know about the food items which prove to be unhealthy in health conditions like Infantile Myofibromatosis and act as aggravating factors. Some of the food items to be avoided include:

• Foods rich in high-fat content: These include dairy products like fatty milk or cheese.
• Food items rich in high sugar content: Such food items are sugary beverages like carbonated drinks, soft drinks, sweetened tea, etc.
• Packaged foods: These include fried as well as deep-fried foods like chips, pizza, etc.
• Ready-made eatables: Examples of such food items are candies, pastries, crackers, pasta, toffees, etc.
• Sources of low-density lipids.

The treatment methods are mainly based upon the specific symptoms present in the individual. Certain side effects associated with the same include:

• Fatigue and weakness
• Bad taste in the mouth
• Diarrhea and upset stomach
• Nausea
• Vomiting
• Feeling sick

Summary: The treatment methods of Infantile Myofibromatosis which involve surgery and chemotherapy, are associated with certain kinds of side effects such as diarrhoea, fatigue, bitter taste in the mouth, etc.

Mild cases of Infantile Myofibromatosis involve tumor formation in the superficial regions of the body such as skin, muscles, bones, etc. These cases usually do not require treatment and undergo spontaneous remission.

However, the cases which involve internal organs are considered severe and require urgent medical care and attention. They can lead to serious complications if not diagnosed and treated in their early phase.

Summary: Mild cases of Infantile Myofibromatosis having a superficial occurrence of tumors do not require urgent care. The severe cases accompanied by tumors affecting the internal organs should undergo urgent medical care and treatment to prevent any complications.

The time period needed to recover from conditions like Infantile Myofibromatosis depends upon the severity of the disease. In this case, the number of tumors and their locations are important to predict or determine the time it will take for the symptoms to resolve.

In mild cases, where the tumors are limited to the superficial regions, spontaneous remission takes place by just waiting and watching the condition. It can’t be predicted how much time it will take exactly.

Summary: The time period required for recovery in the case of Infantile Myofibromatosis is not predetermined. It can be predicted only on the basis of the number and location of tumors which vary in different individuals.

The treatment of Infantile Myofibromatosis involves mainly surgeries, chemotherapy, and genetic counseling. The price of treatment of the disease is the combined expenses related to the preferred methods which are high in the case of Infantile Myofibromatosis. Hence, the treatment is quite expensive in India.

Summary: The price of Infantile Myofibromatosis treatment consists of the expenses related to its treatment methods like surgery, chemotherapy, and genetic counseling. It is quite expensive in countries like India.

Physical exercises are not directly linked with the treatment or recovery from conditions like Infantile Myofibromatosis. However, they facilitate faster healing and recovery. They are important to retain the recovered state and prevent risks of recurrence. Some of the exercise forms preferred in this condition include:

• Mild exercises: These include basic stretching exercises and warm-ups. Walking and brisk walking are also included which are important to improve blood circulation in the body. They enhance the immunity of the affected individual.
• Yoga and meditation: These are important for the development from a physical as the well mental point of view. They increase blood circulation to the brain and strengthen overall immunity and health.

Summary: Although physical exercises are not directly linked with the treatment or recovery in the case of Infantile Myofibromatosis, they are important for promoting better health for a faster healing and recovery process.

The medicines preferred for the treatment in case of infantile myofibromatosis include the following:

• Combination of Methotrexate and Vinblastine: This medicine combo is used in most cases for a complete and successful treatment of the affected children.
• Combination of Vincristine and Actinomycin D: This combination of medicine is not used commonly but preferred in cases with progressive disease conditions.
• Cyclophosphamide: This is used in a few cases which show severe symptoms in a progressive state.

Summary: Certain medicines which are considered to be effective in treating Infantile Myofibromatosis mainly include Methotrexate, Vinblastine, Vincristine, and Cyclophosphamide. These may be used independently or in combination with each other.

The treatment methods of Infantile Myofibromatosis include surgeries, chemotherapy, and genetic counseling. Certain medicines or combinations of medicines are also preferred in some cases. The results of these treatment methods are permanent in most of the cases with complete recovery. Recurrences are usually rare.

Summary: The results of the treatment are permanent in the case of Infantile Myofibromatosis as the main treatment methods involve surgeries, chemotherapy, and genetic counseling.

The method preferred as an alternative to the treatment mainly includes ‘’wait and watch’’. This is usually done in mild cases where the tumors are restricted in the superficial region of the body. The condition is watched and observed till the time it shrinks or resolves on its own. This method prevents the affected individual from undergoing any kind of surgery.

Summary: The alternative to the treatment includes the method of watching and observing the condition till the time tumors shrink or resolve spontaneously. This enables the affected individual to avoid the risks of surgery or chemotherapy.

The mild cases of Infantile Myofibromatosis which is associated with the superficial occurrence of benign tumors do not require treatment and undergo spontaneous remission. On the other hand, the severe cases of tumors formed in the internal organs require urgent care and treatment under trained medical supervision. Such cases are eligible for treatment as they cannot be resolved spontaneously.

The mild cases of Infantile Myofibromatosis in which there is tumor formation in the superficial region, do not require treatment to be resolved. They undergo spontaneous remission and shrink or disappear with time. Such cases are not eligible for treatment.

Post Treatment guidelines are important so as to retain the recovered phase and prevent any further risks of complications or recurrence. Some of the guidelines to be followed include:

• Proper medical care and attention: This includes proper follow-ups after the treatment to prevent any risks of complications related to the disease.
• Lifestyle changes: This includes improving the lifestyle such as implementing regular physical activity and exercises in daily routine.
• Dietary modifications: Dietary changes are important as they help to maintain a better health condition post-recovery.