Kaposiform hemangioendothelioma

What it is

From: Orphanet

A rare, locally aggressive, cutaneous or visceral vascular tumor characterized by either superficial lesions presenting as blue-purple infiltrated ill-defined plaques, or deep lesions usually manifesting with coagulation abnormality. They are associated in about 3 out of 4 of cases with potentially lethal thrombocytopenia and consumption coagulopathy (Kasabach-Merritt phenomenon; KMP).

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.

Chronic disseminated intravascular coagulation · Frequent (79-30%)

A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.

Edema · Frequent (79-30%)

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.

Elevated circulating D-dimer concentration · Frequent (79-30%)

An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.

Erythematous papule · Frequent (79-30%)

A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.

Erythematous plaque · Frequent (79-30%)

A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.

Hypofibrinogenemia · Frequent (79-30%)

Decreased concentration of fibrinogen in the blood.

Lymphedema · Frequent (79-30%)

Localized fluid retention and tissue swelling caused by a compromised lymphatic system.

Pain · Frequent (79-30%)

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

Petechiae · Frequent (79-30%)

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.

Purpura · Frequent (79-30%)

Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.

Thrombocytopenia · Frequent (79-30%)

A reduction in the number of circulating thrombocytes.

Microangiopathic hemolytic anemia · Frequent (79-30%)

Hyperhidrosis · Occasional (29-5%)

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

Hypertrichosis · Occasional (29-5%)

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

When it may begin

From: Orphanet

All ages

Inheritance in the source

From: Orphanet

Not applicable

Which doctor should you see?

The suggested department for discussing Kaposiform hemangioendothelioma 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 Kaposiform hemangioendothelioma. 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.