Hemangioma-Thrombocytopenia Syndrome

Alternative Names

  • Kasabach-Merritt Syndrome
  • KMS
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WHO-ICD-10 version:2010

Neoplasms

Benign neoplasms

OMIM Number

141000

Mode of Inheritance

Autosomal dominant

Description

Hemangioma thrombocytopenia syndrome, called Kasabach-Merritt syndrome, is a very rare disorder characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The occurance of profound thrombocytopenia can cause life-threatening bleeding and may progress to a disseminated coagulopathy in patients with these tumors.

Kasabach-Merritt syndrome typically occurs in early infancy or childhood, although prenatal cases, newborn presentations, and rare adult onset cases have been reported. Various treatments are used, with varying degrees of success including: systemic corticosteroids, radiation therapy, alpha 2a or 2b interferon therapy, vincristine administration, surgical excision, and an antiaggregant combination treatment with ticlopidine and aspirin.

Molecular Genetics

The molecular basis of Kasabach-Merritt syndrome is still unknown.

Epidemiology in the Arab World

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Other Reports

Egypt

Abass et al. (2008) reported the case of a 5-month-old boy who was admitted for the management of an abdominal wall mass.  He was the first child of consanguineous parents following uncomplicated pregnancy and delivery.  At birth a bluish birth mark 5 cm x 5 cm was noted below the umbilicus. Over the next five months, this birth mark increased in size and evolved into a swelling.  The clinical findings and imagining studies followed by laboratory investigations strongly suggested the diagnosis of Kasabach-Merritt syndrome.  Vincristine was initiated after a trial of corticosteroids when the platelet count was 6000/cmm.  One week after the start of vincristine the size of the lesion started to decrease.  At the end of sixth week, the lesion size decreased to half and the platelet count increased to 49,000/cmm.  Vincristine was continued for another two weeks, no further improvement in lesion size or platelet count was observed.  The hemangioma was surgically excised completely.  The histopathological examination of the excised mass revealed a caverno-capillary hemangioma with infiltration into skeletal muscles.

Saudi Arabia

Al-Mazrou and Richardson (2005) reported a 4-month-old female infant with Hemangioma thrombocytopenia syndrome.  She presented with an extensive vascular lesion involving the left parotid, submandibular, and parapharyngeal regions.  She had feeding difficulty, bruising, and petechiae.  She was treated with corticosteroids, within two months her platelet count was normal.

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