Literature DB >> 21557145

Cutaneous, mediastinal and hepatic hemangiomas in a girl followed during 12 years.

I Pascual-Castroviejo1, M Parrón Pajares, S-I Pascual-Pascual, P Jara, R Velázquez-Fragua.   

Abstract

We present in this paper the case of a 12-year-old girl who had the clinical features of 2 different disorders: neurofibromatosis 1 (NF1) and 3 hemangiomas located in the skin, liver and mediastinum. The patient did not receive any specific treatment and showed a normal progressive evolution that lasted 1 / to 2 years and a very slow regression that lasted for a more prolonged time than expected (the 3 hemangiomas have not completely disappeared yet), although all 3 have been asymptomatic. MRI of the brain did not disclose a hemangioblastoma of the cerebellum or any other vascular lesion of the brain. Mental development of this girl was in the borderline range, as is commonly seen in Pascual-Castroviejo II syndrome (P-CIIS)/PHACE syndrome and in NF1, 2 syndromes which have not been reported to be associated in the same patient previously. © Georg Thieme Verlag KG Stuttgart · New York.

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Year:  2011        PMID: 21557145     DOI: 10.1055/s-0031-1273705

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  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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