Genetic Mapping in Papillon-Lefèvre Syndrome: A Report of Two Cases | Zendy

Kaustubh Thakare | Zendy; Manohar Bhongade | Zendy; Pretti Charde | Zendy; Sweta Kale Pisulkar | Zendy; Priyanka Jaiswal | Zendy; B. K. Somnath | Zendy; Sunil Pendor | Zendy

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Genetic Mapping in Papillon-Lefèvre Syndrome: A Report of Two Cases

Author(s) -

Kaustubh Thakare,

Manohar Bhongade,

Pretti Charde,

Sweta Kale Pisulkar,

Priyanka Jaiswal,

B. K. Somnath,

Sunil Pendor

Publication year - 2013

Publication title -

case reports in dentistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.221

H-Index - 11

eISSN - 2090-6447

pISSN - 2090-6455

DOI - 10.1155/2013/404120

Subject(s) - medicine , etiology , aggressive periodontitis , dermatology , presentation (obstetrics) , calcification , pathology , periodontitis , genetics , biology , radiology

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been mapped to chromosome 11q14–q21, which involves mutations of cathepsin C. This paper presents a report of 2 cases of Papillon-lefevre syndrome in which diagnosis is based on clinical presentation and genetic mapping.

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