Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum

2022 ◽  
Author(s):  
Yu Zheng ◽  
Guanghui Zhu ◽  
Yaoxi Liu ◽  
Weihua Zhao ◽  
Yongjia Yang ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Congenital Pseudarthrosis

scholarly journals Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Alessandra D’Amico ◽  
Federica Mazio ◽  
Lorenzo Ugga ◽  
Renato Cuocolo ◽  
Mario Cirillo ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Unidentified Bright Objects

scholarly journals Biologic Characteristics of Fibrous Hamartoma from Congenital Pseudarthrosis of the Tibia Associated with Neurofibromatosis Type 1

2008 ◽  
Vol 90 (12) ◽  
pp. 2735-2744 ◽  
Author(s):  
Tae-Joon Cho ◽  
Joong-Bae Seo ◽  
Hye Ran Lee ◽  
Won Joon Yoo ◽  
Chin Youb Chung ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Congenital Pseudarthrosis

scholarly journals Early development of infants with neurofibromatosis type 1: a case series

2017 ◽  
Vol 8 (1) ◽  
Author(s):  
Anna May Kolesnik ◽  
◽  
Emily Jane Harrison Jones ◽  
Shruti Garg ◽  
Jonathan Green ◽  
...  
Keyword(s):  
Early Development ◽  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type

Selumetinib in the Treatment of Symptomatic Intractable Plexiform Neurofibromas in Neurofibromatosis Type 1: A Prospective Case Series with Emphasis on Side Effects

2020 ◽  
Vol 22 (4) ◽  
pp. 417-423
Author(s):  
Francesco Baldo ◽  
Antonio Giacomo Grasso ◽  
Luisa Cortellazzo Wiel ◽  
Alessandra Maestro ◽  
Marta Paulina Trojniak ◽  
...  
Keyword(s):  
Side Effects ◽  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas ◽  
Prospective Case Series

Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1

2018 ◽  
Vol 179 (5) ◽  
pp. 1216-1217
Author(s):  
A. Marwaha ◽  
J. Malach ◽  
A. Shugar ◽  
S. Hedges ◽  
M. Weinstein ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Phenotype Data

Optical coherence tomography angiography of choroidal nodules in neurofibromatosis type-1: A case series

2021 ◽  
pp. 112067212110307
Author(s):  
Francisco Javier Moreno-Morillo ◽  
José Ignacio Fernández-Vigo ◽  
Bárbara Burgos-Blasco ◽  
Carlos Llorente-La Orden ◽  
Beatriz Vidal-Villegas ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Neurofibromatosis Type 1 ◽  
Optical Coherence Tomography Angiography ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Vessel Density ◽  
Enhanced Depth Imaging ◽  
Optical Coherence ◽  
Near Infrared Reflectance

Purpose: To describe optical coherence tomography angiography (OCTA) findings in the retina and choroid of patients with neurofibromatosis type 1 (NF1). Methods: We describe a series of four patients diagnosed with NF1 and choroidal nodules who underwent a comprehensive ophthalmic evaluation including a retinal multimodal imaging study based on retinography, near-infrared reflectance imaging (NIR), enhanced depth imaging (EDI) optical coherence tomography (OCT) and OCTA. Results: Patients were three women and one man aged 36–47 years. In all patients, the choroidal nodules were not visible in retinographies but easily detectable with NIR, appearing as multiple bright patches. On OCTA, we observed reduced vessel density in the choriocapillaris in zones where choroidal nodules appeared in OCT images. In one patient, a corkscrew vessel was visible in the superficial capillary plexus. Conclusion: Choriocapillaris vessel density was reduced in zones where choroidal nodules occur in NF1 patients. Further work is needed to clarify the clinical relevance of this finding.

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