Tufted angioma

What it is

From: Orphanet

A rare vascular tumor characterized by skin lesions with the appearance of poorly delineated red plaques or patches that may be either congenital or acquired (appearing usually in infants and early childhood) with slow angiomatous proliferation.

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.

Anemia · Frequent (79-30%)

A reduction in erythrocytes volume or hemoglobin concentration.

Hyperhidrosis · Frequent (79-30%)

Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.

Localized skin lesion · Frequent (79-30%)

A lesion of the skin that is located in a specific region rather than being generalized.

Abnormality of the common coagulation pathway · Occasional (29-5%)

An abnormality of blood coagulation, common pathway.

Esotropia · Occasional (29-5%)

A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.

Facial hemangioma · Occasional (29-5%)

Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.

Hemangioma of the lip · Occasional (29-5%)

A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.

Hypertrichosis · Occasional (29-5%)

Hypertrichosis is increased hair growth that is abnormal in quantity or location.

Hypofibrinogenemia · Occasional (29-5%)

Decreased concentration of fibrinogen in the blood.

Megakaryocytopenia · Occasional (29-5%)

A reduced count of megakaryocytes.

Neoplasm of the skin · Occasional (29-5%)

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

Pain · Occasional (29-5%)

An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.

Paresthesia · Occasional (29-5%)

Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.

Petechiae · Occasional (29-5%)

Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.

Other findings in the same source

From: Orphanet

Additional reported features include Purpura (Occasional (29-5%)); Thrombocytopenia (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

All ages

Inheritance in the source

From: Orphanet

Multigenic/multifactorial; Not applicable

Frequency and the population described

From: Orphanet

Reported case(s): 200.0; Worldwide. This is a published case count, not prevalence. Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Tufted angioma is Vascular Medicine, with a vascular specialist / vascular surgeon as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

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 part of the circulation needs assessment?
• What changes in pain, swelling, colour or limb function require prompt reassessment?
• Would observation, a medical approach or a procedure be considered in this case?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Tufted angioma. 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.