Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosome ...

recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...

caused by a deficiency in

cathepsin C Cathepsin C (CTSC) also known as dipeptidyl peptidase I (DPP-I) is a lysosomal exo-cysteine protease belonging to the peptidase C1 protein family, a subgroup of the cysteine cathepsins. In humans, it is encoded by the ''CTSC'' gene. Function ...

. speciality is dermatology medical genetics and dentistry

Presentation

PLS is characterized by

periodontitis Periodontal disease, also known as gum disease, is a set of inflammatory conditions affecting the tissues surrounding the teeth. In its early stage, called gingivitis, the gums become swollen and red and may bleed. It is considered the main c ...

and

palmoplantar keratoderma Palmoplantar keratodermas are a heterogeneous group of skin disorders characterized by abnormal thickening (scleroderma) of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been de ...

. 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

Mutations in the

gene (CTSC), located at human

chromosome A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most import ...

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 An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...

(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.

Diagnosis

Early diagnosis and treatment is important to allow for prompt treatment to prevent long-term consequences such as tooth loss. A diagnosis can be made by a urine analysis for low/no activity of the enzyme cathepsin C. A full patient history and identification of characteristic physical symptoms is another way to identify this syndrome. However, often the symptoms are visually similar to other, milder, conditions, and it is only with the eruption of infant teeth that tissue degeneration or inflammation become apparent, often in conjunction with a sudden abnormality of skin colour. Another physical diagnosis is to identify abnormal accumulation of calcium within the skull.

Genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...

at the molecular level can look for alterations in the ''CTSC'' gene which are known to cause Papillon–Lefèvre syndrome, however this diagnostic service is only available at specialized laboratories.

Treatment

In 2006,

retinoid The retinoids are a class of chemical compounds that are natural derivatives of vitamin A or are chemically related to it. Synthetic retinoids are utilized in cosmetic formulations, clinical dermatology, and the treatment of some forms of cancer ...

s and

antibiotic An antibiotic is a type of antimicrobial substance active against bacteria. It is the most important type of antibacterial agent for fighting pathogenic bacteria, bacterial infections, and antibiotic medications are widely used in the therapy ...

s have been used with a successful dental maintenance for one year. In the past, only extraction of all teeth and construction of a complete denture were made. An alternative to rehabilitation with conventional dental prothesis after total loss of the natural teeth was proposed by Drs. Ahmad Alzahaili and his teacher 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. Notwithstanding this treatment does not scope the disease itself. Actually, it is the repositioning of bone from calvaria to the maxillary bones, and placement of dental implants in a completely edentulous maxilla when the patient has already lost all teeth. An already developed method to reconstruct maxillae in edentulous elderly people by other dental professionals. There's still no real treatment to help those with this disease to keep all their natural teeth, though their exfoliation and loss can be delayed. The maintenance of teeth is done by dental professionals with a procedure called scaling and root planing with the use of systemic antibiotics. The syndrome should be diagnosed as earlier as possible, so the teeth can be kept longer in the mouth, helping the development of the maxillary bones.

Eponym

It is named for M. M. Papillon and

Paul Lefèvre Paul may refer to: People * Paul (given name), a given name, including a list of people * Paul (surname), a list of people * Paul the Apostle, an apostle who wrote many of the books of the New Testament * Ray Hildebrand, half of the singing duo P ...

.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.

References

External links

* {{DEFAULTSORT:Papillon-Lefevre syndrome Autosomal recessive disorders Syndromes affecting the skin Rare syndromes Genodermatoses Palmoplantar keratodermas Congenital defects of phagocyte number, function, or both Syndromes affecting teeth