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Myofibromatosis Infantile 1

Disease Details

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Description: Infantile myofibromatosis type 1 is a rare genetic disorder characterized by the development of benign tumors (myofibromas) in the skin, muscle, bones, and sometimes internal organs during infancy.
Type: Myofibromatosis, infantile 1 is a genetic disorder characterized by the formation of benign tumors in the skin, muscle, bone, and sometimes internal organs. The type of genetic transmission for myofibromatosis, infantile 1 is autosomal dominant.
Signs And Symptoms: Myofibromatosis infantile 1, a rare condition characterized by the development of benign tumors in the skin, muscles, bones, and sometimes internal organs, primarily affects infants. Signs and symptoms can include:

- Firm, nodular masses on the skin or under the skin
- Swollen areas in muscles
- Bone pain or swelling
- Potentially affected internal organs, leading to functional impairment

It's important for affected infants to undergo medical evaluation for proper diagnosis and management.
Prognosis: Infantile myofibromatosis (IMF) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and sometimes internal organs. The prognosis for localized IMF, where tumors are limited to the skin, muscle, or bone, is generally good, as these tumors often regress spontaneously without treatment. However, if internal organs are involved, the prognosis can be more serious and may require medical intervention.
Onset: Infantile myofibromatosis type 1 typically presents at birth or within the first two years of life.
Prevalence: The prevalence of myofibromatosis infantile 1 (IMF1) is not well-documented and specific numbers are not available. It is considered a rare disorder.
Epidemiology: Myofibromatosis infantile 1 (IM1) is a rare disorder characterized by the development of benign fibrous tumors in infants. Epidemiologically, the exact incidence and prevalence are not well-defined due to its rarity. It can present as solitary or multicentric lesions, primarily occurring in the skin, muscle, bone, and occasionally visceral organs. Cases have been reported worldwide, with no significant predilection for any specific ethnicity or gender. The disease often appears within the first two years of life.
Intractability: Infantile myofibromatosis (IM) is not typically classified as intractable. In many cases, it can resolve spontaneously, especially when present as isolated skin or soft tissue lesions. However, for more severe cases involving vital organs or extensive disease, medical management and surgical interventions may be necessary. Prognosis varies depending on the extent of the disease.
Disease Severity: Infantile myofibromatosis (IM) can vary significantly in severity. Some infants may present with solitary skin or soft tissue lesions that are benign and may regress spontaneously. Others may have a more severe form involving multiple organ systems, potentially leading to life-threatening complications, especially if vital organs are affected. The extent and location of tumor involvement heavily influence clinical outcomes and management strategies.
Pathophysiology: Myofibromatosis infantile 1 is a disorder characterized by the development of benign fibrous tumors, called myofibromas, which can occur in the skin, muscle, bone, or internal organs. The pathophysiology involves mutations, most commonly in the PDGFRB gene, which encodes for the platelet-derived growth factor receptor beta. This gene plays a crucial role in cell growth, differentiation, and development. The mutations lead to abnormal cell signaling, promoting the proliferation of myofibroblasts, cells that are responsible for the formation of myofibromas. The growths typically appear in infancy and can spontaneously regress or necessitate medical intervention depending on their size and location.
Carrier Status: Myofibromatosis infantile 1 (also known as infantile myofibromatosis) is usually an autosomal dominant disorder, which means a single copy of the altered gene in each cell is sufficient to cause the disorder. Therefore, carriers of the mutation have a 50% chance of passing it on to their offspring.
Mechanism: Myofibromatosis infantile 1 is a genetic disorder characterized by the development of benign fibrous tumors (myofibromas) in the skin, muscle, bone, and sometimes internal organs. These tumors typically appear in infancy or early childhood.

**Mechanism:**
The development of myofibromas in myofibromatosis infantile 1 primarily involves abnormal cell proliferation and differentiation. These tumors are composed of myofibroblasts, which are cells with features of both fibroblasts and smooth muscle cells. Myofibromas grow in a clonal manner, meaning they arise from a single cell that proliferates abnormally.

**Molecular Mechanisms:**
1. **PDGFRB Mutations:** Most cases of myofibromatosis infantile 1 are associated with mutations in the PDGFRB gene. This gene encodes the beta subunit of the platelet-derived growth factor receptor (PDGFR-β), which is involved in cell growth, survival, and division. Mutations in PDGFRB lead to constitutive activation of the receptor, causing uncontrolled cell proliferation and tumor formation.

2. **Signal Transduction Pathways:** The PDGFR-β receptor, when mutated, activates multiple downstream signaling pathways, including the PI3K/AKT pathway and the MAPK/ERK pathway. These pathways promote cell survival, growth, and division. Abnormal activation of these signaling cascades contributes to the development and progression of myofibromas.

These molecular insights have led to potential therapeutic approaches targeting these pathways, aiming to control tumor growth and improve patient outcomes.
Treatment: For Infantile Myofibromatosis Type 1, treatment primarily focuses on the specific needs and symptoms of the affected infant. In many cases, the condition may resolve spontaneously without treatment. However, if intervention is necessary, options may include:

1. **Observation**: Close monitoring without immediate treatment, especially if the tumors are asymptomatic and not causing complications.

2. **Surgery**: Surgical removal of tumors may be considered if they cause functional impairment or complications.

3. **Medications**: In rare cases, drugs like chemotherapy may be used if there is a rapid progression of the disease or involvement of vital organs.

4. **Supportive Care**: Managing pain and other symptoms as necessary.

The course of treatment should always be individualized, and the approach may vary depending on the number, size, and location of tumors. Consulting a pediatric specialist or a pediatric oncologist is crucial for an appropriate management plan.
Compassionate Use Treatment: Myofibromatosis infantile 1 (IM) involves the development of benign tumors in soft tissues, bones, and internal organs. Since it is a rare condition, treatment options include:

1. **Compassionate Use Treatment:**
- **Sirolimus:** Occasionally used in severe cases, especially when conventional treatments fail. It is an mTOR inhibitor that can help reduce tumor growth.

2. **Off-label or Experimental Treatments:**
- **Chemotherapy:** Agents like vinblastine and methotrexate have been used off-label in some cases.
- **Targeted Therapies:** PDGFR inhibitors, such as imatinib, may be considered due to their influence on pathways implicated in IM.
- **Clinical Trials:** Participation in clinical trials for new and emerging therapies tailored to similar conditions.

These treatments are undertaken under careful medical supervision due to the potential risks and side effects.
Lifestyle Recommendations: For infantile myofibromatosis, there are no specific lifestyle recommendations due to its nature as a rare, benign tumor condition primarily managed through medical interventions. However, general health measures to support the well-being of an affected infant include:

1. Regular Monitoring: Frequent follow-ups with healthcare providers to monitor the growth and development of the tumors.
2. Nutrition: Ensuring the infant has a balanced diet to support overall health.
3. Avoiding Infections: Keeping the infant away from sick individuals to prevent infections, which could complicate medical conditions.
4. Gentle Handling: Taking care to be gentle during physical interaction, especially if there are visible or palpable tumors.
5. Support: Providing emotional and psychological support to the family to help cope with the condition.

Always consult with healthcare providers for specific recommendations tailored to the individual case.
Medication: As of now, there is no specific medication approved for the treatment of infantile myofibromatosis type 1. Management typically involves monitoring the condition, as some cases may resolve spontaneously. Surgical intervention or other treatments may be considered depending on the severity and location of the tumors, as well as any associated complications. Consultation with a healthcare professional is essential for personalized treatment recommendations.
Repurposable Drugs: For myofibromatosis infantile type 1, there is limited specific data on repurposable drugs due to the rarity of the condition. However, affected individuals should be managed by a specialized medical team to explore available treatment options.
Metabolites: Myofibromatosis infantile 1 (IMF1) is a rare genetic disorder characterized by the development of benign fibrous tumors in the skin, muscle, bone, and, in some cases, visceral organs. There is no specific data available on unique metabolites directly associated with myofibromatosis infantile 1. Diagnosis typically involves clinical evaluation, imaging studies, and sometimes genetic testing.
Nutraceuticals: Currently, there are no established nutraceuticals specifically recommended for the treatment or management of myofibromatosis infantile 1. This condition typically requires medical evaluation and treatment approaches directed by healthcare professionals, potentially including surgery, medications, or other medical interventions based on the severity and symptoms of the disease. It is important to consult with a healthcare provider for appropriate diagnosis and treatment options.
Peptides: Myofibromatosis infantile 1 (IMF1) is a rare disorder characterized by the development of benign tumors (myofibromas) in the skin, muscles, bones, and sometimes internal organs. The condition is typically diagnosed in infancy or early childhood. Specific peptide treatments for IMF1 are not well-established, and the management primarily involves surgical removal of tumors and monitoring for potential complications. Since peptide-based therapies are not standard for IMF1, current research in nanotechnology and peptides does not directly address this condition. Treatment plans should be discussed with a medical professional specialized in pediatric and genetic disorders.