Papillon Lefevre Syndrome: Treatment, Cost and Side Effects

Papillon Lefevre Syndrome is an extremely rare disease with only a little over 200 cases in all of the medical history. Papillon lefevre syndrome (PLS) also goes by the name of palmoplantar keratoderma with periodontitis. It is an autosomal recessive genetic disorder. Autosome is the 11th chromosome. If two copies of the defective gene, one from each parent, are acquired in the offspring then the person would be said to be affected with PLS. The parents who are the carriers may not show signs of the carrying the defective gene. It is caused by the deficiency of cathepsin C gene. The symptoms of the syndrome may include the formation of dry and scaly patches of skin. These start to appear at the age of one to five. These patches are formed mainly on the soles of the feet and palms of the hands but could also form on eyelids, cheeks, lips and even elbows. In some cases, there are lesions that worsen in the cold weather and might hurt. Cysts could also be formed on the eyelids at a later age. The teeth are also affected in people who are suffering from the syndrome. Both the primary and the permanent set of teeth are affected as people lose them. Gums may have pockets formed in them, along with bad breath and pain while chewing or biting. Periodontitis take severe form if not treated properly. Since it is one of the rarest diseases, the diagnosis could be made by checking the medical history of the patient and of the parents of the patient as no signs and symptoms are shown by carrier parents. Genetic testing is recommended to patients to be sure of the presence of PLS. Physical examinations may also be conducted of teeth and the skin. As the teeth of an infant begin to erupt, the degeneration and inflammation of the teeth which is a common symptom of the disease should be looked out for. Along with the teeth, the discoloration or any other skin abnormality should also be checked. Physical test such as that of calcium accumulation in the skull is also checked. Urine samples are also taken into consideration, which show less to no activity of cathepsin C (CTSC).

The treatment of Papillon Lefevre Syndrome requires looking after each problem and symptom separately. In other words, the treatment is multi disciplinary. The treatments are complicated and sometimes, the doctors may not be able to diagnose it.

For the treatment and taking care of the teeth of people with the syndrome, retinoids and antibiotics are a big success. Dental maintenance once every year is essential. Earlier, treatments of Papillon Lefevre Syndrome consisted of complete extraction of all the teeth and the construction of a denture. Now, repositioning of the bone is preferred so that the person could lead a normal life. Scaling and root planing could also be suggested for the exfoliation of teeth and gums, to delay the teeth loss that is an inevitable symptom of the syndrome. Even still, the loss can only be delayed, not prevented all together.

For the treatment of the skin that gets dry, scaly and patchy, vitamin A has proved most beneficial. It improves some skin abnormalities that are the symptoms of Papillon Lefevre Syndrome. They also reduce the pus producing skin infections.

Papillon Lefevre Syndrome is a genetic disorder. It is passed on by both carrier parents who show no signs of the syndrome. The affected child starts showing the signs at the infant stage itself. Skin may start to show abnormalities which should be taken into care. The abnormalities could cause pain and discomfort and sometimes take the form of pus producing infections. The primary set of teeth in kids is often lost due the presence of the syndrome. If the treatment isn’t opted for or done properly, these kids might lose their permanent set of teeth at a very young age. After the symptoms start to show, genetic testing may be recommended. Urine samples are also taken. In addition to this, various physical exams are also conducted. Proper diagnostic measure are carried out to make sure that the person is suffering from Papillon Lefevre Syndrome, so that precise treatment could be provided to the patient.

Although the symptoms of the syndrome are clearly defined, but there are a handful of diseases wherein the symptoms may be the same. Haim-Munk syndrome is one such disease wherein the skin shows the shame abnormalities as it does when the person has PLS. Schopf-Schulz-Passarge syndrome, Mal de Meleda, Sjogren-Larsson syndrome Fitzsimmons syndrome and Pachyonychia congenita (PC) show the same scaly and dry skin. Genetic testing and proper examinations should be conducted for the symptoms as the treatments for all these diseases may be extremely differently from the one of PLS.

The medication used for the treatment of skin problems in PLS is retinoid. But it has a list of side effects that it comes with. Although it is used to cure the skin dryness and patchiness, it could result to sensitivity, redness and irritation. Swelling may also be accompanied with all these effects. Thus, it is of advisable to test it on a small portion of skin first and if a problem comes up, consult a doctor so as to know better about the treatment.

The treatment of Papillon Lefevre Syndrome does not cure the symptoms, it just delays it. The skin could be kept from harm and abnormalities, but the loss of teeth is inevitable. Early signs should not be ignored. It is possible to delay the complete loss of teeth but only if the patient is subjected to proper treatment.

Papillon Lefevre Syndrome is a genetic disorder which stays with a person during his/her lifetime. It affects males and females equally. The symptoms are inevitable, although measures and treatment are there to ease the discomfort, which is in case of skin. In the case of teeth loss, it will happen sooner or later.

Some patients with teeth degeneration and loss could opt for dental restructuring. A dentist may conduct physical exams as well as X-rays and then carry out the procedure. In India, a full mouth dental restructuring process could start from INR 1.5 to 20 lakhs. For the treatment of the skin, the various creams and medication prescribed could be found in India in all price ranges. This cost would be in addition to the doctor’s consultation fee, cost of various physical exams, urine tests, genetic tests, etc. which are conducted for the assurance of the disorder and are necessary.

Papillon Lefevre Syndrome starts showing its symptoms from an early age. That is, from the age of just one year, skin abnormalities begin to prop up. They can be eased up but not completely cured. The teeth are lost, whether they are primary or permanent. It is a genetic disorder and stays with the person for life, along with its symptoms, which cannot be subsided, whatsoever. As aforementioned, the loss of teeth can be delayed but by the age of 40, not many people suffering from Papillon Lefevre Syndrome could be seen with teeth in their mouth. If not treated well, children could lose all their teeth.

Unfortunately, there are no alternatives to the treatment of Papillon Lefevre Syndrome. It can only be looked after till the point the symptoms totally take over, rendering all the treatments meaningless. Proper dental care and skin care is advised along with medical attention so that the life and treatment is comfortable and beneficial to the patient and does cause much inconvenience. The first abnormal signs should not be ignored and should be brought into doctor’s attention as soon as one can, in order to give required medication and treatment to the patient.