Rare Diseases Symptoms Automatic Extraction

Papillon-lefevre syndrome.

[papillon-lefèvre syndrome]

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.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.Early diagnosis of Papillon-Lefevre syndrome may help preserve the teeth. We present a case of a late diagnosis of this syndrome.

Diseases presenting "early diagnosis" symptom

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  • congenital adrenal hyperplasia
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  • cowden syndrome
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  • papillon-lefèvre syndrome
  • phenylketonuria
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