Palmoplantar keratoderma and edentulous status: two isolated expressions of Papillon-Lefèvre syndrome

Authors

  • Seema Sharma Department of Paediatrics, Dr. Rajendra Prasad Govt. Medical College and Hospital, Kangra (Tanda), Himachal Pradesh, India
  • Vipin Sharma Department of Orthopaedics, Dr. Rajendra Prasad Govt. Medical College and Hospital, Kangra (Tanda), Himachal Pradesh, India
  • Milap Sharma Department of Paediatrics, Dr. Rajendra Prasad Govt. Medical College and Hospital, Kangra (Tanda), Himachal Pradesh, India
  • Sanjeev Chaudhary Department of Paediatrics, Dr. Rajendra Prasad Govt. Medical College and Hospital, Kangra (Tanda), Himachal Pradesh, India

Keywords:

Keratoderma, Onychodystrophy, Papillon-Lefèvre syndrome

Abstract

Papillon-Lefèvre Syndrome (PLS) is a rare, autosomal recessive disease comprising palmoplantar keratoderma and rapidly progressive and devastating periodontitis, affecting the primary as well as the permanent dentition, attributed to a point mutation of the Cathepsin C gene (CTSC). One of our patients had early onset of severe skin lesions with recurrent pyogenic infections while his elder sibling was edentulous without any other pyogenic infections. This paper describes the clinical variants of PLS in two siblings and briefly reviews the relevant available literature.

References

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Published

2017-02-06

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Section

Case Reports