scholarly journals Neurofibromatosis revisited: A pictorial review

2010 ◽  
Vol 14 (1) ◽  
pp. 16
Author(s):  
Nausheen Khan ◽  
Irma Van de Werke ◽  
Farzanah Ismail

Neurofibromatosis (or von Recklinghausen disease) is a hereditary condition due to mesodermal and neuroectodermal dysplasia, eponymously named after the researcher who reported it in 1882. The disorder is transmitted as an autosomal dominant condition, but 50% of cases arise as spontaneous mutations. The incidence falls within the range 1:2 000 - 1:4 000, and has no gender bias. We present a series of images produced by different modalities that show lesions and pathologies that are characteristic of the disease.

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Cem Yucel ◽  
Salih Budak ◽  
Erdem Kisa ◽  
Orcun Celik ◽  
Zafer Kozacioglu

Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.


1997 ◽  
Vol 12 (2) ◽  
pp. 144-146 ◽  
Author(s):  
Mizuho Horikawa ◽  
Hidetuna Utunomiya ◽  
Seki Hirotaka ◽  
Shuji Yamada ◽  
Etsuo Ohtaki ◽  
...  

2015 ◽  
Vol 43 (1) ◽  
pp. 107-110
Author(s):  
Rosana Guerrero-Domínguez ◽  
Daniel López-Herrera-Rodríguez ◽  
Jesús Acosta-Martínez ◽  
Ignacio Jiménez

Author(s):  
PRISCILA THAÍS RODRIGUES DE ABREU ◽  
SICÍLIA REZENDE OLIVEIRA ◽  
LENI VERÔNICA DE OLIVEIRA SILVA ◽  
ALINE FERNANDA CRUZ ◽  
RICARDO ALVES DE MESQUITA ◽  
...  

2006 ◽  
Vol 43 (4) ◽  
pp. 429-434 ◽  
Author(s):  
Antonio Richieri-Costa ◽  
Lucilene Arilho Ribeiro

Objective First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported. Conclusion Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.


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