| Literature DB >> 15459537 |
Sofie De Schepper1, Sandra Janssens, Ludwine Messiaen, Caroline Van den Broecke, Jean-Marie Naeyaert.
Abstract
Neurofibromatosis type 1 (NF1) is a common neurocutaneous autosomal dominant genetic disorder affecting primarily tissues derived from the embryonic neural crest. Two hallmark features of NF1 are the wide range of potentially affected tissues and the enormous phenotypic variability of disease traits even among patients from the same family. We present a boy fulfilling the diagnostic criteria for NF1 with two unusual lesions: infantile myofibromatosis and a verrucous epidermal nevus. To our knowledge this association has never been described before.Entities:
Mesh:
Year: 2004 PMID: 15459537 DOI: 10.1159/000079894
Source DB: PubMed Journal: Dermatology ISSN: 1018-8665 Impact factor: 5.366