scholarly journals Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

2020 ◽  
Vol 83 (2) ◽  
pp. 643-645
Author(s):  
Katariina Hannula-Jouppi ◽  
Liisa Harjama ◽  
Elisabet Einarsdottir ◽  
Outi Elomaa ◽  
Kaisa Kettunen ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Palmoplantar Keratosis

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

Palmoplantar keratosis caused by arsenic toxicity

2021 ◽  
Author(s):  
Kajal Patel ◽  
Alex Gin ◽  
Laura Scardamaglia
Keyword(s):  
Arsenic Toxicity ◽  
Palmoplantar Keratosis

scholarly journals The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

2009 ◽  
Vol 18 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Erik F Hensen ◽  
Jeroen C Jansen ◽  
Maaike D Siemers ◽  
Jan C Oosterwijk ◽  
Annette HJT Vriends ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Multigenerational Family ◽  
Reduced Penetrance

The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy

2007 ◽  
Vol 17 (6) ◽  
pp. 387-392 ◽  
Author(s):  
Francesca Gensini ◽  
Roberta Sestini ◽  
Mauro Piazzini ◽  
Marina Vignoli ◽  
Alessandra Chiarugi ◽  
...  
Keyword(s):  
High Risk ◽  
Founder Mutation ◽  
Central Italy ◽  
High Risk Melanoma ◽  
Risk Melanoma

scholarly journals A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

2015 ◽  
Vol 3 (2) ◽  
pp. 92-98 ◽  
Author(s):  
Samiah A. Al‐Zaidy ◽  
Vinod Malik ◽  
Kelley Kneile ◽  
Xiomara Q. Rosales ◽  
Ana Maria Gomez ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Puerto Rican ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Progressive Form

Identification of a SCN5A Founder Mutation Causing Sudden Death, Brugada Syndrome and Conduction Blocks in Southern Italy

Heart Rhythm ◽  
2021 ◽  
Author(s):  
Antonio Curcio ◽  
Alberto Malovini ◽  
Andrea Mazzanti ◽  
Mirella Memmi ◽  
Patrick Gambelli ◽  
...  
Keyword(s):  
Sudden Death ◽  
Brugada Syndrome ◽  
Southern Italy ◽  
Founder Mutation
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