scholarly journals A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome

2004 ◽  
Vol 12 (12) ◽  
pp. 1069-1072 ◽  
Author(s):  
Anna Sarkozy ◽  
Maria Gabriela Obregon ◽  
Emanuela Conti ◽  
Giorgia Esposito ◽  
Rita Mingarelli ◽  
...  
Keyword(s):  
Giant Cell ◽  
Gene Mutation ◽  
Noonan Syndrome ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Giant Cell Lesion ◽  
Multiple Lentigines

New insights into the pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation

2016 ◽  
Vol 84 (1) ◽  
pp. e142 ◽  
Author(s):  
Sei-ichiro Motegi ◽  
Yoko Yokoyama ◽  
Sachiko Ogino ◽  
Kazuya Yamada ◽  
Akihiko Uchiyama ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Multiple Lentigines

scholarly journals Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation

2015 ◽  
Vol 95 (8) ◽  
pp. 978-984 ◽  
Author(s):  
S Motegi ◽  
Y Yokoyama ◽  
S Ogino ◽  
K Yamada ◽  
A Uchiyama ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Multiple Lentigines

scholarly journals Central giant cell lesions with an unusual behavior in patient with Noonan syndrome: A case report with 8-year follow-up

2021 ◽  
Vol 10 (1) ◽  
pp. e13510111563
Author(s):  
Gleysson Matias de Assis ◽  
Marcelo Leite Machado da Silveira ◽  
José Wittor de Macêdo Santos ◽  
Humberto Pereira Chaves Neto ◽  
Lucas Melo da Costa ◽  
...  
Keyword(s):  
Giant Cell ◽  
Noonan Syndrome ◽  
Pulmonary Stenosis ◽  
Clinical Information ◽  
Patient Discharge ◽  
Blood Analysis ◽  
Unusual Behavior ◽  
Ptpn11 Gene ◽  
Mandibular Injuries

This study describes a patient with Noonan syndrome affected by multiple Central Giant Cell Lesions (CGCL) in jaws. The lesions presented an unusual behavior since there was no regression size after puberty. The syndrome was diagnosed by collecting clinical information, represented by ocular hypertelorism, low insertion of ears, pulmonary stenosis, cryptorchidism, cardiac abnormalities, short stature, multiple CGCL in the jaws, and blood analysis that found a mutation of the PTPN11 gene. The treatment consisted of systemic calcitonin for a period of 14 months and three surgical procedures at distinct moments. The patient is currently with 20 years and in the eighth-year of follow-up. Although he presented an improvement in deformity, radiological findings showed remodeling without resolution of mandibular injuries, making it clear that injuries will did not always regress after puberty and not confirm previously publications in the literature. We therefore advocate a larger time of follow-up before patient discharge in these cases.

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

2001 ◽  
Vol 98 (3) ◽  
pp. 230-234 ◽  
Author(s):  
D�bora R. Bertola ◽  
Chong A. Kim ◽  
Alexandre C. Pereira ◽  
Gl�ria F.A. Mota ◽  
Jos� E. Krieger ◽  
...  
Keyword(s):  
Giant Cell ◽  
Noonan Syndrome ◽  
Giant Cell Lesion

scholarly journals A PTPN11 Gene Mutation (Y63C) Causing Noonan Syndrome is Not Associated with Short Stature in General Population

2006 ◽  
Vol 208 (3) ◽  
pp. 255-259 ◽  
Author(s):  
Ikuko Takahashi ◽  
Maki Utsunomiya ◽  
Kayoko Inoue ◽  
Tsutomu Takahashi ◽  
Jun-Ichi Nozaki ◽  
...  
Keyword(s):  
General Population ◽  
Short Stature ◽  
Gene Mutation ◽  
Noonan Syndrome ◽  
Ptpn11 Gene

scholarly journals Melanoma in Noonan Syndrome With Multiple Lentigines (LEOPARD syndrome): A new case

2020 ◽  
Vol 111 (7) ◽  
pp. 619-621
Author(s):  
M.F. García-Gil ◽  
M. Álvarez-Salafranca ◽  
A. Valero-Torres ◽  
M. Ara-Martín
Keyword(s):  
Noonan Syndrome ◽  
Leopard Syndrome ◽  
Multiple Lentigines

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines)

2012 ◽  
Vol 158A (6) ◽  
pp. 1406-1410 ◽  
Author(s):  
Juliette Piard ◽  
Alain Verloes ◽  
Hélène Cavé ◽  
Michel Peuchmaur ◽  
Selim Bennaceur ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Leopard Syndrome ◽  
Multiple Lentigines
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