Keratoderma Papillon-Lefevre: symptoms, diagnosis, treatment, prognosis

August 16, 2017 23:00 | Keratoderma

This disease, like keratoderma, has many species( mutilating, Unny-Toast, Meleda and others).Keratodermia Papillon-Lefevre is one of them.Inheritance of this disease also occurs autosomally-recessively.

Features of the disease

The second name for the Papillon-Lefevre keratoderma is the palmar-plantar hyperkeratosis. This syndrome is considered a rare form of ectodermal dysplasia.This pathology is characterized by a fairly early onset( the symptoms manifest themselves in the first three years).

The disease can be found in any ethnic group.It is equally fixed in men, women.Diffuse palmar-plantar keratoderma develops usually in children from the first to the fourth year of life.Its signs are more visible on the soles.On the palms, the defeat is less pronounced.

The disease can sometimes spread to the dorsal parts of the feet, palms.Sometimes the lesion can be found on the limbs:

  • knees;
  • elbows.

In some cases, the disease is associated with such pathologies as: squamous cell carcinoma, malignant

melanoma.

Reasons for the occurrence of

  1. The onset of the syndrome in question is triggered by a mutation of the CTSC gene( 11q14.2).Its function is to encode cathepsin C. When the gene is mutated, loss of cathepsin C activity is observed. This increases the susceptibility to some virulent pathogens.
  2. Some scientists are developing a different version of the pathogenesis of the Papillon-Lefevre syndrome.It consists in the presence of immuno-conditioned defects in the immune defense of the body.

Symptoms of keratodermia of the Papillon-Lefevre

Initially, psoriatic form of hyperkeratosis occurs on the feet, palms.Then, gingivitis manifests, with rapid progression being noted.Gingivitis very quickly passes into periodontitis, which is accompanied by lysis of the bones of the alveolar processes.In children, early loss of infant teeth is recorded.

Children have an exacerbation of lesions of the dermis in such cases:

  • supercooling;
  • acute periodontitis.

There are also cases of the current of the syndrome under consideration with an inconsistent form of periodontitis, periodontitis, characterized by a late onset.Almost half of the patients with Papillon-Lefevre syndrome have increased susceptibility to dermal infections:

  • pyoderma;
  • cutaneous abscess;
  • furunculosis;
  • purulent hydradenitis.

Among the many symptoms of the disease, the following are very unpleasant:

  • hyperhidrosis, which usually accompanies a fetid odor;
  • nail dystrophy;
  • follicular hyperkeratosis.

Diagnosis

For the diagnosis, the specialist studies the clinical signs of pathology.In addition, the specialist will need such diagnostic methods:

  • study of neutrophil function.This diagnostic method helps to detect anomalies of chemotaxis, phagocytosis of polymorphonuclear leukocytes;
  • dental radiography.It is performed to detect the atrophy of the alveolar bone;
  • biochemical analysis.Thanks to him, the loss of the CTSC genome is seen;
  • biopsy of the dermis.It is necessary for the detection of hyperkeratosis with focal parakeratosis, acanthosis, hypergranulosis, perivascular infiltration( moderate);
  • genetic research.They are needed to confirm the results of the diagnosis.

Your doctor may need to perform differential diagnosis with diseases such as:

  • Haim-Munch syndrome;
  • syndrome pubertal periodontitis.

Symptoms similar to the syndrome under consideration are observed in such diseases:

  • keratoderma Meleda;
  • Greater's disease;
  • keratoderma of Werner;
  • point keratosis.

Treatment

Patient Papillon-Lefebvre keratodermia needs oral sanation, antibiotic therapy.In addition, these therapies may be needed:

  • vitamin therapy;
  • application of retinoids;
  • use of angioprotectors.

Therapeutic way

For external use, doctors can prescribe:

  • salt bath;
  • various keratolytic ointments;
  • physiotherapy.

Medication-based

Therapy of the syndrome under consideration consists in the use of retinoids( oral administration).This medication is needed to alleviate the course of the underlying disease( palmar-plantar keratoderma), as well as to slow the lysis of the alveolar bones.

To slow the progression of periodontitis, a specialist prescribes antibiotics. It is very important to monitor oral hygiene, use a mouth rinse. Over time, dairy, molars are replaced with implants.Very effective in the therapy of the Papillon-Lefebvre syndrome was "Etretinat".

Prevention of the disease

The only preventative measure is the genetic consultation of the child's parents.If they find a defective gene, the doctor should report the possibility of a child with this syndrome.

Complications of palmar-plantar hyperkeratosis

The only complication is the attachment of an abscess infection.

Forecast

Even with qualitative therapy, with proper dental care, with Papillon-Lefevre's syndrome, you can not save your teeth.Already by the beginning of adulthood, the patient's molars all fall out.For life expectancy the disease is practically not affected.