scholarly journals Papillon-Lefèvre Syndrome: Diagnosis, Dental Management, and a Case Report

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Jean-Claude Abou Chedid ◽  
Michel Salameh ◽  
Abbass El-Outa ◽  
Ziad E. F. Noujeim
Keyword(s):  
Autosomal Recessive ◽  
Clinical Signs ◽  
Aggressive Periodontitis ◽  
Permanent Teeth ◽  
Recessive Trait ◽  
Inherited Disease ◽  
Dental Management ◽  
Palmoplantar Hyperkeratosis ◽  
Detailed Family History ◽  
History Of

Aim. This paper revisits Papillon-Lefèvre syndrome (PLS), addresses its diagnostic update and dental management, and reports a case of a 5-year-old Lebanese patient with consanguineously married parents. Background. PLS, also known as “keratoris palmoplantaris with periodontopathia” and “hyperkeratosis palmoplantaris with periodontosis,” is an extremely rare autosomal-recessive trait that combines a diffuse palmoplantar hyperkeratosis and a severe generalized, progressive prepubertal form of a precocious form of juvenile, aggressive periodontitis. Case Description. We are reporting a 5-year-old boy that sustained a spontaneous loss of all his primary teeth. At consultation, he was under treatment for hyperkeratosis of his palms and soles. Detailed family history of the child revealed that the patient’s parents, grandparents, and relatives were consanguineously married and two of his cousins displayed similar clinical signs (palmoplantar hyperkeratosis and premature loss of deciduous and most of the permanent teeth). Conclusion. PLS is an extremely rare disorder that usually becomes apparent from approximately 1-5 years of age. Genetic counseling should always be suggested to parents of affected children, informing them of chances of their offspring having the inherited disease.

scholarly journals Periodontal Manifestations in a Patient with Haim-Munk Syndrome

2010 ◽  
Vol 04 (03) ◽  
pp. 338-340
Author(s):  
Kamile Erciyas ◽  
Serhat Inaloz ◽  
A. Fuat Erciyas
Keyword(s):  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Bone Destruction ◽  
Autosomal Recessive Disorder ◽  
Aggressive Periodontitis ◽  
Pes Planus ◽  
Rare Autosomal Recessive Disorder ◽  
Rare Anomaly ◽  
Palmoplantar Hyperkeratosis

Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the periodontal manifestations, in order to attract the attention of dental clinicians to this rare anomaly. (Eur J Dent 2010;4:338-340)

scholarly journals Orthodontic Treatments of Papillon-Lefevre Syndrome: Two Case Reports

2021 ◽  
Vol 30 (02) ◽  
pp. 132-138
Author(s):  
Laila Fawzi Baidas ◽  
Keyword(s):  
Orthodontic Treatment ◽  
Autosomal Recessive ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Mixed Dentition ◽  
Permanent Teeth ◽  
Dental Arch ◽  
Facial Appearance ◽  
Deciduous Dentition ◽  
Palmoplantar Hyperkeratosis

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early onset of severe destructive periodontitis causing premature loss of both deciduous and permanent dentitions at a young age. In this article two cases of patients with Papillon-Lefevre syndrome in late mixed dentition are presented. The objective of these case reports was to illustrate that under a controlled regime of periodontal treatment, orthodontic treatment is possible in patients with Papillon-Lefevre syndrome. In both cases, the deciduous dentition was lost prematurely shortly after eruption. The permanent teeth erupt without any guidance, and this can lead to loss of space, crowding, and collapse of the dental arch. The aim of the treatment was to expand the arch, create space to allow normal eruption of the permanent teeth, and stabilize the occlusion to help the patient achieve a normal facial appearance rather than the collapsed appearance caused by early extractions. KEYWORDS: Papillon-Lefevre Syndrome, Orthodontics, Mixed dentition, Case reports

scholarly journals A method for Junctional Epidermolysis Bullosa diagnostication in draft horses

2008 ◽  
Vol 24 (1-2) ◽  
pp. 127-132 ◽  
Author(s):  
S. Georgescu ◽  
M. Manea ◽  
A. Dinischiotu ◽  
C. Tesio ◽  
M. Costache
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Polypeptide Chain ◽  
Genetic Test ◽  
Skin Lesions ◽  
Recessive Trait ◽  
Inherited Disease ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5 ◽  
Skin Loss

Junctional Epidermolysis Bullosa (JEB) is an inherited disease which causes skin lesions in newborn foals and results in large areas of skin loss. The mutation responsible for the disease is a cytosine insertion in the LAMC2 gene, which results in absent expression of the laminin ?2 polypeptide chain of laminin 5. JEB is inherited as an autosomal recessive trait (Spirito et al. 2002, Milenkovic et al. 2003, Spirito et al. 2002). Our objective was to develop an easy and efficient method for correctly identifying the normal homozygous and heterozygous carrier horses for the JEB trait. We analyzed a population of Romanian Draft Horses using a set of primers which amplify a fragment from the LAMC2 gene possibly containing the insertion. The number of allele peaks depends on whether the horse tested is a heterozygote (carrier) or homozygote (normal or JEB affected). Results suggest that the genetic test will be useful in identifying horses which are heterozygous for the JEB trait and foals with JEB.

scholarly journals A Case Report: Papillon Lefevre Syndrome

2019 ◽  
Vol 3 (2) ◽  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Genetic Disorder ◽  
Autosomal Recessive Disorder ◽  
Antimicrobial Treatment ◽  
Periodontal Treatment ◽  
Permanent Teeth ◽  
Gingival Inflammation ◽  
Palmoplantar Hyperkeratosis

Study Background: Papillon Lefevre Syndrome (PLS) is an autosomal recessive inherited genetic disorder characterized by palmoplantar hyperkeratosis and premature loss of deciduous and permanent teeth. Mutation of cathepsin C gene has been detected in the patient with PLS. In this case report, oral and radioghaphic findings of one PLS patient were discussed. 14 year old male patient diagnosed with PLS after radiographic, dermatologic and dental examination was referred to our clinic due to severe gingival inflamation and mobility. Severe gingival inflamation, alveolar bone resorption and multiple teeth loss due to periodontal reasons were observed. Mild palmar and moderate plantar hyperkeratosis were observed but no other systemic problems were detected. Methods: Non-surgical periodontal treatment was perfomed among multiple sessions and in each session subgingival tissues had been irrigated with %2 chlorhexidine irrigation solution. To reduce severe gingival inflammation antibiotherary has been prescribed. Hopeless teeth were extracted. Results: After non-surgical periodontal treatment and antibiotherary severe gingival inflammation was reduced but not eliminated completely, mobility score of some teeth reached to zero score, patient was motivated about oral hygiene and was taken into maintanence phases. After having extracted hopeless teeth patient was directed for prosthodontic rehabilitation. Conclusion: PLS is a rare autosomal recessive disorder. With PLS-specific dermatologic findings and characteristic periodontal view, it is possible to be able to identify the disease in its very early stages. Early diagnosis of the disease and institution of an appropriate periodontal and antimicrobial treatment might improve the prognosis.

scholarly journals Papillon-lefevere syndrome-Consanguity as a risk factor in siblings (Case series)

2021 ◽  
Vol 7 (3) ◽  
pp. 210-215
Author(s):  
Jaya Dubey ◽  
Shilpa J Parikh ◽  
Jigna S Shah
Keyword(s):  
Risk Factor ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Case Series ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Palmoplantar Keratoderma ◽  
Palmoplantar Hyperkeratosis ◽  
Severe Periodontitis ◽  
The Family

Papillon-Lefevere syndrome is a very rare autosomal recessive trait characterized by palmoplantar hyperkeratosis and severe generalized early-onset periodontitis leading to premature loss of primary and permanent dentitions. Various etiopathogenesis factors are associated with syndrome. The palmoplantar keratoderma typically has its onset between the ages of 1 and 4 years and severe periodontitis starts at age of 3-4 years. A dentist plays an important role in early diagnosing and preserving remaining teeth in oral cavity. This case series describes three cases of PLS in siblings with consanguineously married parents. All siblings in the family were affected which makes this a rare case.

scholarly journals Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon–Lefèvre Syndrome?

2017 ◽  
Vol 06 (04) ◽  
pp. 238-240 ◽  
Author(s):  
Maha Abouzaid ◽  
Manal Thomas ◽  
Ghada El-Kamah ◽  
Mostafa Mostafa
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Pain Sensation ◽  
Early Loss ◽  
Congenital Insensitivity ◽  
Palmoplantar Hyperkeratosis ◽  
Affected Sibling ◽  
History Of ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

AbstractPapillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS. Further clinical examination and detailed history taking shifted the diagnosis to CIPA. CIPA could be misdiagnosed as PLS. Congenital insensitivity to pain with anhidrosis, although rare, should be considered in the differential diagnosis of PLS.

Intraocular tuberculosis, a challenge in diagnosis and treatment

2020 ◽  
Vol 3 ◽  
pp. 4
Author(s):  
Martina Larroude ◽  
Gustavo Ariel Budmann
Keyword(s):  
Developing Countries ◽  
Clinical Signs ◽  
Steady Increase ◽  
Ocular Tuberculosis ◽  
Industrial Countries ◽  
Choroidal Granuloma ◽  
History Of ◽  
And Migration ◽  
Ocular Tb

Ocular tuberculosis (TB) is an extrapulmonary tuberculous condition and has variable manifestations. The incidence of TB is still high in developing countries, and a steady increase in new cases has been observed in industrial countries as a result of the growing number of immunodeficient patients and migration from developing countries. Choroidal granuloma is a rare and atypical location of TB. We present a case of a presumptive choroidal granuloma. This case exposes that diagnosis can be remarkably challenging when there is no history of pulmonary TB. The recognition of clinical signs of ocular TB is extremely important since it provides a clinical pathway toward tailored investigations and decision making for initiating anti-TB therapy and to ensure a close follow-up to detect the development of any complication.

Surgical management of choke through oesophagotomy in a buffalo: A case report

2017 ◽  
Vol 12 (3) ◽  
Author(s):  
Devasee Borakhatariya ◽  
A. B. Gadara
Keyword(s):  
Case Report ◽  
Surgical Management ◽  
Clinical Presentation ◽  
Clinical Signs ◽  
Thoracic Inlet ◽  
Cervical Oesophagus ◽  
Foreign Objects ◽  
History Of ◽  
Oesophageal Obstruction ◽  
Large Animals

Oesophageal disorders are relatively uncommon in large animals. Oesophageal obstruction is the most frequently encountered clinical presentation in bovine and it may be intraluminal or extra luminal (Haven, 1990). Intraluminal obstruction or “choke” is the most common abnormality that usually occurs when foreign objects, large feedstuff, medicated boluses, trichobezoars, or oesophageal granuloma lodge in the lumen of the oesophagus. Oesophageal obstructions in bovine commonly occur at the pharynx, the cranial aspect of the cervical oesophagus, the thoracic inlet, or the base of the heart (Choudhary et al., 2010). Diagnosis of such problem depends on the history of eating particular foodstuff and clinical signs as bloat, tenesmus, retching, and salivation

scholarly journals L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 682
Author(s):  
Matthias Christen ◽  
Nils Janzen ◽  
Anne Fraser ◽  
Adrian C. Sewell ◽  
Vidhya Jagannathan ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Genetic Defect ◽  
Clinical Signs ◽  
Missense Variant ◽  
Microcytic Anemia ◽  
Abnormal Behavior ◽  
Functional Candidate Gene ◽  
History Of ◽  
The Brain ◽  
Hydroxyglutaric Acid

A 7-month-old, spayed female, domestic longhair cat with L-2-hydroxyglutaric aciduria (L-2-HGA) was investigated. The aim of this study was to investigate the clinical signs, metabolic changes and underlying genetic defect. The owner of the cat reported a 4-month history of multiple paroxysmal seizure-like episodes, characterized by running around the house, often in circles, with abnormal behavior, bumping into obstacles, salivating and often urinating. The episodes were followed by a period of disorientation and inappetence. Neurological examination revealed an absent bilateral menace response. Routine blood work revealed mild microcytic anemia but biochemistry, ammonia, lactate and pre- and post-prandial bile acids were unremarkable. MRI of the brain identified multifocal, bilaterally symmetrical and T2-weighted hyperintensities within the prosencephalon, mesencephalon and metencephalon, primarily affecting the grey matter. Urinary organic acids identified highly increased levels of L-2-hydroxyglutaric acid. The cat was treated with the anticonvulsants levetiracetam and phenobarbitone and has been seizure-free for 16 months. We sequenced the genome of the affected cat and compared the data to 48 control genomes. L2HGDH, coding for L-2-hydroxyglutarate dehydrogenase, was investigated as the top functional candidate gene. This search revealed a single private protein-changing variant in the affected cat. The identified homozygous variant, XM_023255678.1:c.1301A>G, is predicted to result in an amino acid change in the L2HGDH protein, XP_023111446.1:p.His434Arg. The available clinical and biochemical data together with current knowledge about L2HGDH variants and their functional impact in humans and dogs allow us to classify the p.His434Arg variant as a causative variant for the observed neurological signs in this cat.

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