Infantile myofibromatosis

What it is

From: Orphanet

A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal metaphysis morphology · Very frequent (99-80%)

An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.

Abnormality of the musculature · Very frequent (99-80%)

Abnormality originating in one or more muscles, i.e., of the set of muscles of body.

Bone cyst · Very frequent (99-80%)

A fluid filled cavity that develops with a bone.

Fibroma · Very frequent (99-80%)

Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.

Neoplasm of the skin · Very frequent (99-80%)

A tumor (abnormal growth of tissue) of the skin.

Sarcoma · Very frequent (99-80%)

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.

Subcutaneous nodule · Very frequent (99-80%)

Slightly elevated lesions on or in the skin with a diameter of over 5 mm.

Abnormal intestine morphology · Frequent (79-30%)

An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.

Abnormal skull morphology · Frequent (79-30%)

An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.

Abnormal thorax morphology · Frequent (79-30%)

Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).

Abnormality of the face · Frequent (79-30%)

An abnormality of the face.

Abnormality of the hair · Frequent (79-30%)

An abnormality of the hair.

Chondrocalcinosis · Frequent (79-30%)

Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .

Gingival fibromatosis · Frequent (79-30%)

The presence of fibrosis of the gingiva.

Other findings in the same source

From: Orphanet

Additional reported features include Neoplasm of the lung (Frequent (79-30%)); Abnormal sacrum morphology (Occasional (29-5%)); Abnormality of the eye (Occasional (29-5%)); Abnormality of the kidney (Occasional (29-5%)); Hemiplegia/hemiparesis (Occasional (29-5%)); Hypercalcemia (Occasional (29-5%)); Intestinal obstruction (Occasional (29-5%)); Limitation of joint mobility (Occasional (29-5%)); Neoplasm of the pancreas (Occasional (29-5%)); Osteolysis (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Antenatal; Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive; Not applicable

Frequency and the population described

From: Orphanet

Prevalence at birth: 1-9 / 1 000 000; Europe; Value and class. Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Infantile myofibromatosis is Dermatology, with a dermatologist as the relevant type of clinician. Dermatologist; paediatric services for children as appropriate.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which features of the skin, hair or nails distinguish the possibilities?
• Would photographs over time help document the changes?
• What should be expected from treatment, and how will irritation or other adverse effects be managed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Infantile myofibromatosis. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.