Open AccessA case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1
Author(s) -
Boulier Kristin,
Erwin Deanna J.,
Nagamani Sandesh,
Eble Tanya N.
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1908
Subject(s) - neurofibromatosis , medicine , phenotype , clinical phenotype , dermatology , neurofibromatosis type i , bioinformatics , pathology , genetics , gene , biology
Key Clinical Message Even in well‐described genetic syndromes, such as neurofibromatosis type 1, expansion of the phenotype should be considered as a possible explanation for atypical presentations. However, it is critical to complete the evaluation for a potential dual diagnosis, as there could be significant prognostic and management implications.