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Kaposiform hemangioendothelioma
Disease definition
A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.
ORPHA:2122
Classification level: Disorder- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Not applicable
- Age of onset: All ages
- ICD-10: D18.0
- OMIM: -
- UMLS: C1367420
- MeSH: C537007
- GARD: 3077
- MedDRA: -
Summary
Epidemiology
The prevalence is unknown.
Clinical description
Kaposiform haemangioendothelioma may develop at any age, but is most common during infancy. Congenital forms have also been described. Depending on the initial site of development, the vascular tumours present as sensitive blue-purple infiltrated plaques, palpable masses or as a tumour compression syndrome (retroperitoneal, severe cervical or mediastinal forms). The majority of reported cases concern the complicated visceral forms. Superficial forms appear to be less common. Cutaneous forms show clinical similarities to tufted angiomas, or graft on to diffuse lymphatic malformations (lymphangiomas). Osseous and regional lymph node involvement has been reported but metastasis does not appear to be a feature of this disease.
Etiology
The etiology is unknown.
Diagnostic methods
The diagnosis is based on the results of histological studies (after definition of the boundaries by magnetic resonance imaging, MRI), which reveal nodules and dense nests of fusiform cells with slight cellular atypia and mitotic activity, frequent slit-like vascular spaces and positive immunostaining for the D2-40 lymphatic marker.
Differential diagnosis
The differential diagnoses include Kaposi's sarcoma and tufted angioma. The clinical similarities with tufted angioma, the association of both conditions with Kasabach-Merritt syndrome and the histological features of these syndromes have led to the suggestion that kaposiform haemangioendothelioma and tufted angioma are part of the same clinical spectrum of vascular tumours.
Antenatal diagnosis
Prenatal diagnosis is possible for voluminous forms of kaposiform haemangioendothelioma through detection of highly vascularised masses on foetal ultrasound, followed by foetal MRI. However, precise diagnosis of the tumour type can only be made by biopsy after the birth.
Management and treatment
Treatment depends of the form of disease present: treatment of non-complicated cutaneous forms differs from that for forms associated with Kasabach-Merritt syndrome. Non-complicated cutaneous forms presenting as relatively small lesions may be treated by local corticotherapy, whereas diffuse invalidating forms may require alpha 2b-interferon therapy or vincristine administration. Therapeutic options for forms associated with Kasabach-Merritt syndrome include pharmacological treatment (systemic corticotherapy, vincristine, alpha 2b-interferon, polychemotherapy and a combination of ticlopidine, asprin and pentoxyphilline), embolisation, surgical excision and radiotherapy.
Prognosis
The prognosis depends on the chronicity of the lesions and extent of the complications (severity of the form present and association with Kasabach-Merritt syndrome).
Additional information