Papillon–Lefèvre syndrome

Papillon-Lefevre syndrome
Classification and external resources
Specialty
OMIM	245000
DiseasesDB	9583
Patient UK	Papillon–Lefèvre syndrome
MeSH	D010214

Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C.

Characteristics

PLS is characterized by periodontitis and palmoplantar keratoderma. The severe destruction of periodontium results in loss of most primary teeth by the age of 4 and most permanent teeth by age 14. Hyperkeratosis of palms and soles of feet appear in first few years of life. Destructions of periodontium follows almost immediately after the eruption of last molar tooth. The teeth are involved in roughly the same order in which they erupt.

Cause and Genetics

Papillon–Lefèvre syndrome has an autosomal recessive pattern of inheritance.

Mutations in the cathepsin C gene (CTSC), located at human chromosome 11q14.1-q14.3, are the cause of PLS. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 11 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Treatment

In the past, Retinoids and antibiotics have been used. as well as the Extraction of all teeth and construct complete denture.

A newer alternative to conventional management of the disease is a treatment proposed by Drs Ahmad Al Zuhaili and Jean-François Tulasne (developer of the partial bone graft technique used). This approach entails transplanting bone extracted from the cortical external surface of the parietal bone to the patient’s mouth, affording the patient the opportunity to lead a normal life.

Eponym

It is named for M. M. Papillon and Paul Lefèvre.

See also

• Porokeratosis plantaris discreta
• List of cutaneous conditions
• List of dental abnormalities associated with cutaneous conditions

External links

• Overview at mu.edu
• Keratosis palmoplantar periodontopathy; Papillon Lefevre Syndrome at NIH's Office of Rare Diseases

• Online 'Mendelian Inheritance in Man' (OMIM) 245000
• Online 'Mendelian Inheritance in Man' (OMIM) 602365
• synd/1804 at Who Named It?
• M. M. Papillon, P. Lefèvre. Deux cas de kératodermie palmaire et plantaire symétrique familiale (maladie de Meleda) chez le frère et la soeur. Coexistence dans les deux cas d’altérations dentaires graves. Bulletin de la Société française de dermatologie et de vénéorologie, Paris, 1924, 31: 82-87.