Document Detail

Papillon-lefevre syndrome.
MedLine Citation:
PMID:  21886733     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
MAIN OBSERVATIONS: 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.
CONCLUSION: Early diagnosis of Papillon-Lefevre syndrome may help preserve the teeth. We present a case of a late diagnosis of this syndrome.
Mashkoor Ahmad; Iffat Hassan; Qazi Masood
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of dermatological case reports     Volume:  3     ISSN:  1898-7249     ISO Abbreviation:  J Dermatol Case Rep     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2011-09-02     Completed Date:  2011-11-10     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  101493700     Medline TA:  J Dermatol Case Rep     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  53-5     Citation Subset:  -    
Department of Dermatology, STD & Leprosy, Govt. Medical College and Associated SMHS Hospital, Srinagar-Kashmir (J&K), India.
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