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 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.

OPTIMIZATION OF SURGICAL-ORTHODONTIC TREATMENT TACTICS IN PATIENTS WITH IMPACTED TEETH

2019 ◽  
Vol 72 (5) ◽  
pp. 838-845
Author(s):  
Pavlo I. Tkachenko ◽  
Maryna I. Dmytrenko ◽  
Mykola O. Cholovskyi
Keyword(s):  
Orthodontic Treatment ◽  
Objective Assessment ◽  
Optimal Path ◽  
Reference Points ◽  
Permanent Teeth ◽  
Diagnostic Process ◽  
Specific Reference ◽  
Dental Arch ◽  
Impacted Tooth ◽  
Impacted Teeth

Introduction: Impacted teeth is complex anomaly of teeth eruption that requires a balanced approach not only in the differential diagnosis of its forms, but choice of rational methods of treatment. The aim: Optimization of the tactics of orthodontic-surgical treatment of patients with impacted teeth based on the development and implementation of computed tomographic indices (KT) and photometric indices (FM) of opening of surgical access (OSA) to crowns of impacted teeth Materials and methods: The results of treatment of 48 patients with delay of permanent teeth eruption have been analyzed. For an objective assessment of treatment results, a group of 24 (aged from 9 to 19 years old ) was formed. All 24 patients had typical clinical situation. Results: Orthodontic correction of patients envisaged, first of all, the elimination of obstacles in the way of teeth eruption, if necessary to provide space in dental arch and simultaneous treatment of associated bite malocclusions. Surgical exposure of impacted tooth crown was carried out and at the same time a triangular shaped guiding channel was formed, base of channel was at the impacted tooth and its angle finished into the dental arch. Precise dimensions and depth of the channel were preliminary planed on computed tomography slices with 3D reconstruction. Mean values of CT width (7,13±0,54mm), and length (6,42±0,78mm) of OSA and CT index (130,79±8,19%) of OSA to impacted teeth crowns were determined. Conclusion: To improve the quality of diagnosis and optimization of methodological approaches to treatment of patients with teeth impaction, we have proposed CT and FM OSA indices to the crowns of impacted teeth. The developed indices serve as specific reference points for optimization of diagnostic process, for reducing of probability of repeated surgical interventions and choosing the optimal path for instrumental orthodontic treatment of patients with impacted teeth

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)

Arginase Deficiency Presenting as Cerebral Palsy

PEDIATRICS ◽  
1993 ◽  
Vol 91 (5) ◽  
pp. 995-996
Author(s):  
ANGELA E. SCHEUERLE ◽  
ROBERT MCVIE ◽  
ARTHUR L. BEAUDET ◽  
STUART K. SHAPIRA
Keyword(s):  
Cerebral Palsy ◽  
Autosomal Recessive ◽  
Urea Cycle ◽  
Case Reports ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Psychomotor Retardation ◽  
Uncomplicated Pregnancy ◽  
Arginase Deficiency ◽  
Cycle Disorders

Arginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. The enzyme deficiency disease, argininemia, is a rare autosomal recessive disorder which presents with progressive psychomotor retardation, growth failure, seizures, and spasticity affecting the lower extremities more than the upper.1 It does not, however, commonly have the severe hyperammonemia seen with other urea cycle disorders.1,2 We describe two unrelated patients, previously thought to have cerebral palsy, who were later found to have arginase deficiency. This suggests that the condition may be underdiagnosed because of its relatively mild symptoms. CASE REPORTS Patient 1, a 9-year-old boy, was born at term after an uncomplicated pregnancy to nonconsanguineous African-American parents.

Ellis-van Creveld Syndrome and Dyserythropoiesis

2005 ◽  
Vol 129 (5) ◽  
pp. 680-682 ◽  
Author(s):  
Deven Scurlock ◽  
Daniel Ostler ◽  
Andy Nguyen ◽  
Amer Wahed
Keyword(s):  
Myelodysplastic Syndrome ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Clinical Findings ◽  
Cardiac Defects ◽  
Ellis Van Creveld Syndrome ◽  
Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

The Impacts and Outcomes of Presurgical Nasoalveolar Molding (PNAM) in Newborn Sequential Therapeutic Implementation

2021 ◽  
Author(s):  
Vonda Trivosa
Keyword(s):  
Incidence Rate ◽  
Rural Areas ◽  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Mixed Dentition ◽  
Deciduous Dentition ◽  
Parents And Children ◽  
Nasoalveolar Molding

Cleft lip and palate is a common congenital malformation in the oral and maxillofacial regions. According to epidemiological investigation, the incidence rate is about 1.625%, and the incidence rate is high in poor areas and rural areas. Cleft lip and palate mainly involve the upper lip, hard palate, soft palate and nose, which can damage the appearance of children, affect pronunciation, swallowing and chewing, and also bring different degrees of psychological damage to children in the growth stage. Therefore, we should actively carry out sequential treatment and participate in the treatment work through multi-disciplines. Based on restoring the oral and maxillofacial function and health of children, we should also pay attention to their aesthetic needs, enhance the treatment confidence of parents and children, and lay the foundation for the follow-up repair treatment. Most patients with cleft lip and palate are complicated with malocclusion. Orthodontic treatment is an important part of the treatment of cleft lip and palate. The orthodontic treatment of cleft lip and palate can be divided into five periods: newborn period, deciduous dentition period, mixed dentition period, permanent dentition period and combined orthodontic and orthognathic treatment period. Presurgicalnasoalveolar molding (PNAM) was used to reduce the severity of facial deformity in children with cleft lip and palate. This article discusses the therapeutic effect of newborn PNAM according to clinical cases. Objective to study the opportunity and current situation of PNAM in the treatment of children with cleft lip and palate, and to provide a favorable reference for clinical orthodontists, emphasizing the close communication between various disciplines.

scholarly journals Early timely orthodontic treatment: Treatment of unerupted maxillary laterals

2021 ◽  
Vol 11 ◽  
pp. 4-13
Author(s):  
Peter Ngan ◽  
Mohamad Sarraj ◽  
Ghaddy AlSaty
Keyword(s):  
Early Intervention ◽  
Orthodontic Treatment ◽  
Case Reports ◽  
Young Patients ◽  
Mixed Dentition ◽  
Maxillary Expansion ◽  
Orthopedic Treatment ◽  
Maxillary Protraction ◽  
Posterior Crossbite ◽  
Timely Treatment

There is no universal agreement as to which type of orthodontic or orthopedic treatment deserves early intervention. In addition, there is a need for more information as to which treatments are the most effective and less costly if they are initiated timely in the mixed dentition. Early timely treatment may benefit young patients with a maxillary transverse deficiency with or without a posterior crossbite that requires maxillary expansion. It may also be indicated in children with anteroposterior jaw discrepancy that requires chin cup or maxillary protraction. In this paper, the authors will focus on early maxillary expansion to facilitate the eruption of maxillary laterals. In specific, the authors will present a contemporary protocol using a bonded maxillary expander as anchorage for treatment of unerupted maxillary laterals. The use of this protocol was illustrated with two case reports to enable clinicians to routinely achieve a beautiful smile on a young patient by timely alignment of the maxillary incisors.

scholarly journals Carnitine Palmitoyltranferase Type 1 Deficiency: A Case Report of Fatty Acid Oxidation Disorder Encephalopathy

2020 ◽  
Author(s):  
Pantea Tajik ◽  
Amir Hossein Goudarzian ◽  
Zeinab Pourzahabi
Keyword(s):  
Case Report ◽  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Autosomal Recessive ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Acid Oxidation ◽  
Ketotic Hypoglycemia ◽  
Recessive Defect ◽  
Carnitine Palmitoyltransferase 1

Background: Carnitine palmitoyltransferase-1 (CPT-1) deficiency is a rare autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fewer than 30 case reports. Case report: A 30-month-old child with fever and loss of consciousness was referred to our hospital. She had symptoms of colds for three days that were treated, but she had anorexia.Her abdomen was soft and hepatomegaly 5 cm below the edge of the rib was detected. According to a neurological consultation, with the probability of a seizure, the patient beganto receive levetiracetam. The patient was treated with sodium benzoate due to her decreased level of consciousness and increased blood ammonia (300). In the acylcarnitine profile, mildlyelevated levels of single acylcarnitine were seen to confirm the diagnosis of CPT-1 deficiency. Conclusions: CPT-1 deficiency is a rare autosomal recessive defect of mitochondrial longchain fatty acid oxidation that presents as an acute “Reye-like” hepatic encephalopathy andnon-ketotic hypoglycemia, developmental delay, and hepatomegaly.

scholarly journals Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients’ Dental Management

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Lorna Hirst ◽  
Gehan Abou-Ameira ◽  
Simon Critchlow
Keyword(s):  
Autosomal Recessive ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Bone Dysplasia ◽  
Hypophosphataemic Rickets ◽  
Tertiary Referral Hospital ◽  
Street Hospital ◽  
Great Ormond Street Hospital ◽  
Dental Management ◽  
Raine Syndrome

Raine Syndrome (RS) also referred to as lethal osteosclerotic bone dysplasia describes an exceptionally rare autosomal recessive disorder with an estimated prevalence of <1 in 1,000,000. Endocrinological manifestations such as hypophosphataemic rickets depict a recent finding within the phenotypic spectrum of nonlethal RS. The dental sequelae of hypophosphataemic rickets are significant. Spontaneous recurrent abscesses on noncarious teeth result in significant odontogenic pain and multiple dental interventions. The dental presentations of nonlethal RS are less widely described within the literature. Amelogenesis Imperfecta (AI), however, was recently postulated as a key characteristic. This article presents the dental manifestations and extensive restorative and oral surgical intervention of three siblings with hypophosphataemic rickets secondary to Raine Syndrome treated at Great Ormond Street Hospital for Children, a tertiary referral hospital.

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.

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