Papillon-Lefevre syndrom: kazuistika

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Title in English	Papillon-Lefevre syndrome: case report
Authors	IZAKOVIČOVÁ HOLLÁ Lydie FASSMANN Antonín KUKLETOVÁ Martina SAZMOVÁ Věra
Year of publication	2009
Type	Article in Periodical
Magazine / Source	Praktické zubní lékařství
MU Faculty or unit	Faculty of Medicine
Citation
Field	ORL, ophthalmology, stomatology
Keywords	Papillon-Lefevre syndrome; hyperkeratosis; periodontitis; gene; mutation; cathepsin C
Description	Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by severe early-onset periodontal destruction involving both the deciduous and permanent dentition and skin lesions of palmoplantar hyperkeratosis. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). The aim of this study was analyzed the CTST gene in one Czech family with PLS.
Related projects:	Dental research centre Analýza polymorfizmů v genech prozánětlivých a remodelačních faktorů ve vztahu k imunitní reakci a klinickému stavu pacientů s parodontitidou