Kevin P Boyd1, Bruce R Korf, Amy Theos. 1. Departments of Dermatology and Genetics, University of Alabama at Birmingham, 1530 3rd Ave S., Birmingham, AL 35294-0009, USA.
Abstract
UNLABELLED: Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While no medical therapies for NF1 are currently available, trials are ongoing to discover and test medical treatments for the various manifestations of NF1, primarily plexiform neurofibromas, learning disabilities, and optic pathway gliomas. In addition, mutational analysis has become available on a clinical basis and is useful for diagnostic confirmation in individuals who do not fulfill diagnostic criteria or when a prenatal diagnosis is desired. There are several disorders that may share overlapping features with NF1; in 2007, a disorder with cutaneous findings similar to NF1 was described. This paper addresses the dermatologist's role in diagnosis and management of NF1 and describes the variety of cutaneous and extracutaneous findings in NF1 to which the dermatologist may be exposed. LEARNING OBJECTIVES: After completing this learning activity, participants should be able to discuss the indications and limitations of genetic testing in neurofibromatosis type 1, distinguish common and uncommon cutaneous findings, and recognize the dermatologist's role in diagnosis and management.
UNLABELLED: Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While no medical therapies for NF1 are currently available, trials are ongoing to discover and test medical treatments for the various manifestations of NF1, primarily plexiform neurofibromas, learning disabilities, and optic pathway gliomas. In addition, mutational analysis has become available on a clinical basis and is useful for diagnostic confirmation in individuals who do not fulfill diagnostic criteria or when a prenatal diagnosis is desired. There are several disorders that may share overlapping features with NF1; in 2007, a disorder with cutaneous findings similar to NF1 was described. This paper addresses the dermatologist's role in diagnosis and management of NF1 and describes the variety of cutaneous and extracutaneous findings in NF1 to which the dermatologist may be exposed. LEARNING OBJECTIVES: After completing this learning activity, participants should be able to discuss the indications and limitations of genetic testing in neurofibromatosis type 1, distinguish common and uncommon cutaneous findings, and recognize the dermatologist's role in diagnosis and management.
Authors: D H Gutmann; A Aylsworth; J C Carey; B Korf; J Marks; R E Pyeritz; A Rubenstein; D Viskochil Journal: JAMA Date: 1997-07-02 Impact factor: 56.272
Authors: Bruce Korf; Reza Ahmadian; Judith Allanson; Yoko Aoki; Annette Bakker; Emma Burkitt Wright; Brian Denger; Ype Elgersma; Bruce D Gelb; Karen W Gripp; Bronwyn Kerr; Maria Kontaridis; Conxi Lazaro; Corinne Linardic; Reymundo Lozano; Calum A MacRae; Ludwine Messiaen; Sonia Mulero-Navarro; Benjamin Neel; Scott Plotkin; Katherine A Rauen; Amy Roberts; Alcino J Silva; Sitta G Sittampalam; Chao Zhang; Lisa Schoyer Journal: Am J Med Genet A Date: 2015-04-21 Impact factor: 2.802
Authors: Paula Nascimento Almeida; Gustavo Torres Souza; Camila Maurmann de Souza; Rafaella Souza Salomão de Zanette; Claudinéia Pereira Maranduba; João Vitor Paes Rettore; Marcelo Oliveira de Santos; Antônio Márcio Resende do Carmo; Carlos Magno Costa da Maranduba; Fernando Sá de Silva Journal: Childs Nerv Syst Date: 2014-12-06 Impact factor: 1.475
Authors: Joseph L Kissil; Jaishri O Blakeley; Rosalie E Ferner; Susan M Huson; Michel Kalamarides; Victor-Felix Mautner; Frank McCormick; Helen Morrison; Roger Packer; Vijaya Ramesh; Nancy Ratner; Katherine A Rauen; David A Stevenson; Kim Hunter-Schaedle; Kathryn North Journal: Am J Med Genet A Date: 2010-02 Impact factor: 2.802
Authors: Claudinéia Pereira Maranduba; Gustavo Torres Souza; Antônio Márcio Resende do Carmo; José Marcelo Sallabert de Campos; Nádia Rezende Barbosa Raposo; Marcelo de Olivera Santos; Carlos Magno da Costa Maranduba; Fernando de Sá Silva Journal: Childs Nerv Syst Date: 2020-11-20 Impact factor: 1.475