title: Papillon-lefevre syndrome.
abstract: BACKGROUND
  Papillon-Lefevre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibility to infections. Onset of palmoplantar hyperkeratosis and periodontopathy is most commonly before the age of 4 years.
  
  
  METHODS
  A 15 year old boy with a history of frequent infections presented with hyperkeratosis of palms and soles, which worsened during winter season. Examination of the oral cavity revealed missing mandibular central incisors and left lateral incisors. Most remaining permanent teeth were mobile. Fibrosis and scarring of gingival and labial mucosa restricted opening of the mouth.
  
  
  CONCLUSIONS
  Early diagnosis of Papillon-Lefevre syndrome may help preserve the teeth. We present a case of a late diagnosis of this syndrome.
authors: Department of Dermatology, STD & Leprosy, Govt. Medical College and Associated SMHS Hospital, Srinagar-Kashmir (J&K), India.
authors: Mashkoor
authors: M
authors: Ahmad
authors: Iffat
authors: I
authors: Hassan
authors: Qazi
authors: Q
authors: Masood