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Papillon - Lefevre Syndrome.

P P Paily, M J Joy, P K Moorthy

Indian Journal of Dermatology, Venereology and Leprology

|February 15, 2017

Summary

This summary is machine-generated.

This study describes two siblings with Papillon-Lefevre syndrome, a rare genetic disorder. Both siblings presented with unusual symmetrical nail changes, including hyperkeratosis and dystrophy, alongside typical symptoms.

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Area of Science:

Genetics
Dermatology
Rare Diseases

Background:

Papillon-Lefevre syndrome is a rare autosomal recessive disorder.
Key features include palmoplantar hyperkeratosis and periodontitis.
Nail abnormalities are less commonly reported but can occur.

Purpose of the Study:

To describe the clinical presentation of two siblings with Papillon-Lefevre syndrome.
To highlight the specific nail findings in these patients.
To contribute to the understanding of phenotypic variability in Papillon-Lefevre syndrome.

Main Methods:

Case report of two affected siblings.
Clinical examination focusing on dermatological and nail findings.
Review of existing literature on Papillon-Lefevre syndrome.

Main Results:

Both siblings exhibited the characteristic palmoplantar hyperkeratosis.
Uniquely, both presented with symmetrical, progressive hyperkeratosis and dystrophy affecting all fingernails and toenails.
No significant periodontitis was noted in this pair.

Conclusions:

Papillon-Lefevre syndrome can manifest with significant nail dystrophy alongside classic symptoms.
The symmetrical and progressive nature of the nail changes in this case is noteworthy.
Further research is needed to elucidate the genetic and clinical factors influencing nail involvement in this syndrome.