Literature DB >> 12080515

[Cutaneous haemangioma associated with a hepatic haemangioma and neurofibromatosis type 1 (NF1)].

I Pascual-Castroviejo1, P Cortes, J Fernández-Cuadrado, M de la Flor-Crespo, S I Pascual Pascual.   

Abstract

OBJECTIVE: To present a girl with cutaneous cavernous hemangioma associated with hemangioma of the liver and neurofibromatosis type 1 (NF1). PATIENTS AND METHODS: A 3 year old girl showed cutaneous cavernous hemangioma on the right hypochondral region and numerous caf au lait spots. She was studied with abdominal echography and abdominal and thoracic magnetic resonance (MR) as well as with cerebral MR angiography.
RESULTS: Both image studies, echography and MR, revealed a mass 2 x 2 cm of hemangiomatous type in the upper zone of the liver, near the external cutaneous cavernous hemangioma. Echographical follow up showed a progressive diminution of the hepatic hemangioma size. At 2 1/2 years of age a voluminous thoracic tumor extending between aorta and sternon very difficult of being removed was found.
CONCLUSION: Hemangioma of the liver appears to be related with cutaneous cavernous hemangioma as a finding of the syndrome of Pascual Castroviejo II. Furthermore, the patient has NF1 which has not been previously related with the cutaneous and/or the liver pathology.

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Year:  2002        PMID: 12080515

Source DB:  PubMed          Journal:  Rev Neurol        ISSN: 0210-0010            Impact factor:   0.870


  1 in total

1.  Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion-deletion mutation.

Authors:  Lude Zhu; Lei Shi; Bo Wang; Mingye Bi; Jie Pu; Linglin Zhang; Yunfeng Zhang; Xiuli Wang; Guolong Zhang
Journal:  J Dermatol       Date:  2016-07-04       Impact factor: 4.005

  1 in total

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