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 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 Cockayne Syndrome with ERCC8 Gene Mutation: A Case Report

2021 ◽  
Vol 44 (3) ◽  
pp. 181-183
Author(s):  
Kanij Fatema ◽  
Md Mizanur Rahman ◽  
Shaheen Akhter
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Cockayne Syndrome ◽  
Global Developmental Delay ◽  
Hearing Disorders ◽  
Cognitive Delay ◽  
Intracerebral Calcification

Cockayne syndrome (CS) is a genetic disorder characterized by growth failure, microcephaly, cognitive delay, visual and hearing disorders. Patients usually present with dysmorphism and global delay. It is an autosomal recessive disorder, mutation of two genes ERCC8 and ERCC6 were observed. We report a 4 year old child who was diagnosed as a case of Cockayne syndrome, based on clinical, neuroimaging and genetic study findings. This case had growth failure, dysmorphism, optic atrophy, global developmental delay, intracerebral calcification and mutation of ERCC8 gene. Bangladesh J Child Health 2020; VOL 44 (3) :181-183

scholarly journals Papillon Lefevre Syndrome: Diagnosis and Management in Two Affected Siblings – A Case Report

2020 ◽  
Vol 29 (04) ◽  
pp. 264-268
Author(s):  
Abul Khair Zalan ◽  
◽  
Khadeejah Khalil Zubairy ◽  
Anser Maxood ◽  
Manahil Niazi ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Major Gene ◽  
Autosomal Recessive Disorder ◽  
Permanent Teeth ◽  
Loss Of Function ◽  
Genetic Studies ◽  
Diagnosis And Management ◽  
Syndrome Diagnosis ◽  
Dent Assoc

Papillon-Lefèvre syndrome (PLS) an autosomal recessive disorder characterized by diffuse transgradient palmar-plantar hyperkeratosis, with premature loss of deciduous and permanent teeth, along with the calcification of the dura mater. This results in teeth radiographically appearing as “floating” in the soft tissue. Genetic studies of patients with PLS have mapped the major gene locus to chromosome 11q24-q21 and revealed mutation and loss of function of the cathepsin gene. It affects 1- 4 people per 1 million population with no gender or racial predilection. Dermatological manifestations, usually occurs before four years of age, include hyperkeratosis of palms and soles, nail dystrophy, hyperhidrosis and keratinization on elbows and knees with the lesions appearing as white, yellow-like or red plaques or patches that then develop cracks, crusts, or deep fissures. KEYWORD: Papillon-lefevre syndrome, hyperkeratosis HOW TO CITE: Zalan AK, Zubairy KK, Maxood A, Niazi M, Zaman H, Gul A, Anser M. Papillon lefevre syndrome: Diagnosis and management in two affected siblings – A case report. J Pak Dent Assoc 2020;29(4):264-268.

Aggressive periodontitis of the primary dentition associated with idiopathic immune deficiency: case report and treatment considerations

2005 ◽  
Vol 29 (1) ◽  
pp. 27-31 ◽  
Author(s):  
Enrique Bimstein ◽  
Michael McIlwain ◽  
Joseph Katz ◽  
Greg Jerrell ◽  
Robert Primosch
Keyword(s):  
Immune Deficiency ◽  
Case Report ◽  
Primary Teeth ◽  
Aggressive Periodontitis ◽  
Primary Dentition ◽  
Permanent Teeth ◽  
Gingival Inflammation ◽  
Adequate Treatment ◽  
Treatment Considerations ◽  
Topical Applications

The present case, of a child with an idiopathic immune deficiency and aggressive periodontitis in the primary dentition, serves as an example for the treatment considerations in these cases. Extraction of all the primary teeth proved to be the most adequate treatment. It allowed the child to eat properly and prevented unwanted infections that could endanger the life of the child. The newly erupted permanent teeth have been subjected to careful oral hygiene, clorhexidine topical applications, and have mild gingival inflammation and no attachment loss.

scholarly journals A Rare and Fatal Complication of a Self-Limiting Infection: A Case Report on Dengue Associated Hemophagocytic Lymphohistiocytosis

2019 ◽  
Vol 30 (2) ◽  
pp. 93-95
Author(s):  
Alvin Oliver Payus ◽  
Cheong Lei Wah ◽  
Syahrul Sazliyana Shaharir
Keyword(s):  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Autosomal Recessive ◽  
De Novo ◽  
Medical Condition ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Intravenous Methylprednisolone ◽  
Appropriate Treatment ◽  
Life Threatening

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening medical condition characterized by hyperphagocytosis secondary to an inappropriate over-activation of macrophages and lymphocytes that driven by excessive cytokines production which resulted in cellular destructions. It can arise de novo as a result of an autosomal recessive genetic disorder, or in the background of an infection, malignancy or autoimmune disease. Dengue fever is one of the uncommon causes of infection related secondary HLH. Here, we present a case of a Dengue associated HLH which was successfully treated with intravenous methylprednisolone and immunoglobulin G. In conclusion, the purpose of this case report is to illustrate the importance of early recognition and prompt initiation of the appropriate treatment for HLH suspected patient whom otherwise has high mortality rate. Bangladesh J Medicine July 2019; 30(2) : 93-95

scholarly journals Pycnodysostosis with Special Emphasis on Dentofacial Characteristics

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Aisha Khoja ◽  
Mubassar Fida ◽  
Attiya Shaikh
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Bone Turnover ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Great Emphasis ◽  
Treatment Goals ◽  
Oral Complications ◽  
Characteristic Features ◽  
Insight Into

Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. The diagnosis of this disorder is established on the basis of its characteristic features and must be differentially diagnosed with other bone disorders. Dental surgeons should be aware of the limitations and possible adverse oral complications such as osteomyelitis of bone in these patients. This will guide them in planning realistic treatment goals. This paper reports the clinical and radiographic features of pycnodysostosis with the great emphasis on its dentofacial characteristics. The aim of this case report is to give an insight into the etiology, pathogenesis, and differential diagnosis of this disorder and to prepare the dentists and maxillofacial surgeons to overcome the challenges in treating these patients.

Beta-ketothiolase deficiency brought with lethargy: Case report

2011 ◽  
Vol 30 (10) ◽  
pp. 1724-1727 ◽  
Author(s):  
Vefik Arica ◽  
Secil Gunher Arica ◽  
Huseyin Dag ◽  
Hatice Onur ◽  
Ömer Obut ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Blood Glucose ◽  
Amino Acid ◽  
Ketone Body ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Branched Chain Amino Acid ◽  
Amino Acid Levels ◽  
Branched Chain

Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.

scholarly journals Alpha II Antiplasmin Deficiency Complicating Pregnancy: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Brenda Dawley
Keyword(s):  
Case Report ◽  
Prenatal Care ◽  
Medical History ◽  
Multidisciplinary Team ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Severe Preeclampsia ◽  
Team Approach ◽  
Multidisciplinary Team Approach ◽  
Multiple Episodes

Background. Alpha II antiplasmin is a protein involved in the inhibition of fibrinolysis. A deficiency in this protein leads to increased hemorrhage. It is inherited in an autosomal recessive fashion.Case. 30-year-old Gravida 1, Para 0, presented for prenatal care with her first and subsequently her second pregnancy. Her medical history was significant for a known deficiency in alpha II antiplasmin. Her first and second pregnancies were complicated by nonobstetrical hemorrhage requiring transfusions and severe preeclampsia requiring preterm deliveries.Conclusion. Alpha II antiplasmin deficiency resulted in multiple episodes of nonobstetrical hemorrhages requiring transfusion and ultimately preterm deliveries due to severe preeclampsia. Both infants and mother had a good outcome. The presence of this disorder may require a multidisciplinary team approach involving obstetricians, pediatricians, and hematologists.Precis. Alpha II antiplasmin deficiency is a rare autosomal recessive disorder leading to increased fibrinolysis and hemorrhage. We present a case report of a pregnancy complicated by this disorder.

scholarly journals Soft Tissue Reconstruction with Free Gingival Graft Technique following Excision of a Fibroma

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Nurcan Tezci ◽  
Suleyman Emre Meseli ◽  
Burcu Karaduman ◽  
Serap Dogan ◽  
Sabri Hasan Meric
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Squamous Epithelium ◽  
Alveolar Bone ◽  
Periodontal Treatment ◽  
Soft Tissue Reconstruction ◽  
Free Gingival Graft ◽  
Tissue Reconstruction ◽  
Stratified Squamous Epithelium ◽  
Gingival Graft

Background. Oral fibromas are benign, asymptomatic, smooth surfaced, firm structured tumoral lesions that originate from gingival connective tissue or periodontal ligament. Histologically, they are nodular masses characterized by a dense connective tissue, surrounded by stratified squamous epithelium.Case Report. This case report includes the clinical, radiographical, and histological findings and periodontal treatment of a 38-year-old female patient having painless swelling on the gingiva. Intraoral examination revealed a fibrotic, sessile, smooth surfaced gingival overgrowth interdentally between the teeth #13 and #14. Radiographical findings were normal. Initial periodontal treatment (IPT) was applied including oral hygiene instructions, scaling, and root planing. Following IPT, the lesion (0.7 × 0.6 × 0.4 cm) was excised and examined histopathologically. Subsequently, flap operation was performed to have an access to alveolar bone. Surgical site was reconstructed with free gingival graft obtained from hard palate. Hematoxylin-eosin stained sections revealed a nodular mass composed by dense collagen fibers in lamina propria covered by a stratified squamous epithelium, which were consistent with fibroma. Gingival healing was uneventful and without any recurrence during the 12-month follow-up.Conclusions. In order to achieve optimal functional and aesthetical outcomes, free gingival graft can be used for the reconstruction of the wound site after the excision of the fibroma.

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