Leukocyte adhesion deficiency in a child with severe oral involvement

Leukocyte adhesion deficiency is a rare inherited defect of phagocytic function resulting from a lack of leukocyte cell surface expression of beta2 integrin molecules (CD11 and CD18) that are essential for leukocyte adhesion to endothelial cells and chemotaxis. A small number of patients with leukocyte adhesion deficiency-1 have a milder defect, with residual expression of CD18. These patients tend to survive beyond infancy; they manifest progressive severe periodontitis, alveolar bone loss, periodontal pocket formation, and partial or total premature loss of the primary and permanent dentitions. We report on a 13-year-old boy with moderate leukocyte adhesion deficiency-1 and severe prepubertal periodontitis. This case illustrates the need for the dentist to work closely with the pediatrician in the prevention of premature tooth loss and control of oral infection in these patients.     

Dental findings and treatment in consanguinity associated congenital chronic familial neutropenia

The purpose of this report is to describe dental findings and treatment of an 11-year old male patient and a 5-year old female patient, children of first cousins, suffering from severe benign congenital chronic familial neutropenia. This case report emphazises the importance of differential diagnosis of immunodeficiencies including congenital chronic familial neutropenia in the background of severe periodontal diseases and/or diffuse carious lesions in children.     

Leukocyte adhesion defect‐I: rare primary immune deficiency

Leukocyte adhesion defect I is a rare disorder (1:1,000,000) caused by diminished expression of CD‐18 β2 integrins on leukocytes leading to abnormal adhesion, migration, and chemotaxis. Clinical manifestations include delayed separation of umbilical cord, omphalitis, recurrent severe infections, impaired wound healing, persistent oral ulcers, and severe periodontitis in primary and permanent dentition. A 5‐year‐old girl, second‐born child to parents with consanguinity, presented with pain and mobility of lower teeth. There was history of recurrent infections and multiple hospital admissions with CD18 level‐3% and frame shift mutation in ITGB2, on 21q22.3. There were scars on hands and feet. Oral examination revealed multiple missing teeth and periodontitis in primary dentition. Oral prophylaxis and palliative treatments were performed with periodic follow‐ups. Interdisciplinary care is ubiquitous for patients with immune deficiencies. Early consultation with pediatric dentists and exploration of medical history is essential for diagnosis and treatment of rare diseases.     

Severe alveolar bone loss and gingival hyperplasia as initial manifestation of Burkitt cell type acute lymphoblastic leukemia

BACKGROUND: The purpose of this case report is to present severe alveolar bone destruction and gingival enlargement as initial manifestation of Burkitt cell type acute lymphoblastic leukemia (ALL-L3) in a 14-year-old boy. METHODS: The patient was referred to the periodontology department with a 4-week history of gingival enlargement and loosening of teeth. The clinical examination revealed gingival enlargement and expansion of alveolar mucosa particularly in molar regions of both jaws. Almost all teeth had deep periodontal pockets and severe mobility. While the radiographs showed severe alveolar bone loss which extended to apical thirds of many teeth, the microbiologic analysis revealed that the patient did not harbor major periodontopathogenic bacteria species. The results of blood tests and bone marrow aspiration were compatible with ALL-L3. RESULTS: Remission-induction treatment with BFM-90 ALL chemotherapy protocol was started; however, the patient died 4 weeks after the diagnosis due to neutropenic sepsis. CONCLUSIONS: Although no biopsy was performed, it is possible that the severe periodontal destruction and gingival enlargement in this case may have been due to the infiltration of leukemic cells in gingiva, periodontal ligament, and alveolar bone. The similarities of these findings with numb chin syndrome (NCS) and Burkitt's lymphoma (BL) are discussed in this report.     

Prepubertal periodontitis associated with chronic granulomatous disease

BACKGROUND: Generalised prepubertal periodontitis is a rare entity that is usually a consequence of severe systemic diseases. Chronic granulomatous disease is one of the extremely rare inherited immunodeficiency diseases, which predisposes the patient to recurrent severe bacterial and fungal infections. AIM: The purpose of this report is to describe a 5-year old male patient suffering from prepubertal periodontitis associated with chronic granulomatous disease, who was referred to the Department of Periodontology for treatment of severe gingival inflammation. METHODS: A detailed past history was obtained and thorough clinical and laboratory examinations were performed. RESULTS: Medical tests revealed the only immunodeficiency sign as the extremely low burst test result. The patient was diagnosed as having an autosomal recessive (AR) form of chronic granulomatous disease. He was put on prophylactic treatment with trimethoprim-sulfamethoxazole (TMP-SMX) and also a periodontal maintenance regimen with regular 1-month intervals. CONCLUSION: This case report emphasises the importance of the differential diagnosis of severe immunodeficiency in the background of prepubertal periodontitis.     

Tetraploid/diploid mosaicism with generalized aggressive periodontitis

BACKGROUND: Changes of chromosome number diploid to triploid or tetraploid states are rare in human pregnancies, where the main clinical features of tetraploidy are delayed growth and/or craniofacial abnormalities. The present report describes the oral features of tetraploid/diploid mosaicism. Although the medical literature described the physical manifestations of this genetic abnormality, the oral features of this disorder were not previously described. METHODS: A 13-year-old patient presented because of his severe periodontal conditions. Clinical, radiological, microbiologic, immunologic, and genetic examinations were conducted. RESULTS: Long eyelashes and mandibular micrognathia were noticeable in his extraoral examination. Intraoral examination revealed significant generalized edema of the gingiva and severe sulcular bleeding on probing. Generalized maxillary and mandibular alveolar destruction was determined with radiographic examination. Actinobacillus actinomycetemcomitans was also detected in his subgingival samples. He was diagnosed as generalized aggressive periodontitis. His medical cytogenetic examination revealed 92,XXYY (25%)/46,XY (75%) karyotype indicating tetraploid/diploid mosaicism. He was given initial and advanced periodontal therapy and he is currently under a routine follow-up period. CONCLUSIONS: This report provides information on the oral characteristics of tetraploid/diploid mosaicism and describes periodontal treatment. Severe periodontal conditions such as aggressive periodontitis may accompany tetraploid/diploid mosaicism subjects and these patients should be frequently seen by their dental practitioners. It is suggested that initial and/or advanced periodontal procedures may be a way of treating tetraploid/diploid mosaicism subjects with aggressive periodontitis. The importance of physical examination and medical consultation is also discussed.     

Periodontal disease in HIV-positive individuals: association of periodontal indices with stages of HIV disease

BACKGROUND: Periodontal disease has been previously associated with human immunodeficiency virus (HIV) infection, and HIV infection has been considered a modifier of periodontal disease. The aim of this study was to report the prevalence and severity of periodontal disease in a population of HIV-positive individuals and to investigate the association between clinical periodontal indices and the stage of HIV disease, as expressed by CD4 cell counts. METHODS: Thirty-nine male HIV-positive patients were recruited and a medical history was taken. To evaluate periodontal disease, probing depth (PD), attachment level loss (AL), bleeding index (BI), and modified gingival index (MGI) were recorded. Associations between the above indices and CD4 counts were examined. RESULTS: Immunocompromised patients (with CD4 cell counts < 200 cells/microl) showed significantly lower BI and fewer sites with PD and AL > 4 mm compared to patients with CD4 cell counts > 200 cells/microl. When patients with CD4 counts < 500 cells/microl were considered alone, a correlation was observed between CD4 cell counts and BI (r2 = 0.1617, P = 0.0463), MGI (r2 = 0.2123, P = 0.0204), and number of sites with AL > 4 mm (r2 = 0.1469, P = 0.056). CONCLUSIONS: Severely immunocompromised HIV-positive patients showed less severe gingival inflammation than expected. Patients with CD4 cell counts > 500 cells/microl showed no association between CD4 cell count and periodontal indices.     

A case of severe periodontal disease in adolescence associated with hypophosphatasia

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization, deficiency of alkaline phosphatase (ALP) activity, increased excretion of phosphoethanolamine (PEA) in the urine and premature loss of the deciduous teeth. A male hypophosphatasia patient aged 15 years 6 months, with premature exfoliation of the deciduous teeth and manifesting severe periodontal destruction in the permanent dentition, was examined. Antibody titers against seven strains by the enzyme-linked immunosorbent assay (ELISA), monocyte and neutrophil chemotaxis studies and cellular immunity tests were performed. Low levels of ALP in serum and PEA in the urine were found. Radiographic examination showed a similar pattern of alveolar bone loss to that of the localized juvenile periodontitis. Suppressed monocyte and neutrophil chemotaxis were not detected. Slightly depressed CD2+, CD3+ and CD4+ and slightly elevated activity of NK cells were found. An elevated level of antibody to Porphyromonas gingivalis was observed and this antibody titer was decreased by periodontal treatments. The affected sites of the patient showed resistance to conventional periodontal therapy. P. gingivalis was estimated to associate as an important pathogen in the etiology of periodontal destruction in this hypophosphatasia patient in addition to the dental abnormalities such as abnormal enamel, dentin, or cementum formation.     

Ultrastructure of the periodontal lesion in a case of Papillon-Lefèvre syndronne (PLS)

Abstract In this study, 11 permanent teeth and their associated soft tissues from an 11-year-old boy with PLS were examined. Plaque, cementum and periodontal tissues were examitied by scanning (SEM) and transmission electron microscopy (TEM), Except for depressed lymphocyte transformation, there were no abnormal haematological data. Local findings included abnormally thin cementum, extensive destruction of the periodontal ligament were still attached to the root, and severe inflammation of the soft tissues. Few bacteria were found in any of the soft tissue layers. The apical border plaque was restricted to gram- cocci and rods. The features observed in this case of PLS may indicate primary defects of cementum or ligament attachment, or disruption of fibroblast and cementoblast function due to the rapid advance of the disease process. Lack of bacterial invasion in the pocket soft tissue casts doubt on its involvement in the present case of severe periodontitis. The restricted range of morphotypes observed suggests a limited range of associated organisms. Further research is required to clarify the rôle of the host response and to identify the organisms involved.     

Langerhans' cell histiocytosis in a 5-year-old girl: evidence of periodontal pathogens

BACKGROUND: Langerhans' cell histiocytosis (LCH) is a rare disorder characterized by Langerhans' cell proliferation in various organs or tissues. When periodontal tissue is involved, clinical manifestations can vary from gingival recession and pocket formation to severe alveolar bone loss. This case report describes periodontal pathogens found in the pockets of involved primary teeth. METHODS: A 5-year-old girl with LCH presented with loose teeth. Intraoral examination and radiographs revealed deep pockets and severe bone loss around all primary molars. Bacterial samples were obtained from saliva and subgingival plaque and analyzed for the presence of five periodontopathic bacteria using a polymerase chain reaction (PCR) method. Due to severe periodontal destruction, all primary molars were extracted, and a gingival biopsy was taken from tooth T to confirm the diagnosis of LCH. RESULTS: The biopsy specimen revealed the histologic features of LCH. The patient was diagnosed as having periodontitis as a manifestation of LCH. PCR results of subgingival plaque from LCH-affected molars indicated the presence of Porphyromonas gingivalis, Tannerella forsythensis, Treponema denticola, and Prevotella intermedia. However, Actinobacillus actinomycetemcomitans was absent from these teeth. No tested bacteria were found in the non-affected anterior teeth. CONCLUSIONS: The bacteria commonly associated with periodontal disease were detected in subgingival plaque samples from this LCH patient. More microbiological data are required to understand the role of these bacteria in LCH-associated periodontal destruction.     

Generalized periodontitis associated with Chédiak-Higashi syndrome

BACKGROUND: Chédiak-Higashi syndrome (CHS) is a rare immunodeficient disorder. Patients with CHS are prone to severe periodontitis. To date, limited improvement following periodontal therapy has been reported. Thus, successful clinical outcomes in patients with CHS are of interest. METHODS: A 12-year-old girl was referred to the Department of Pediatric Dentistry, H?tel-Dieu/Garancière Hospital, for acute gingival inflammation and periodontal destruction. After a periodontal examination, the patient was sent to the Department of Medicine, Robert Debré Hospital, for a hematologic examination and was diagnosed with CHS. She has been receiving medical and dental treatments since that time. The medical treatment consisted of continuous, long-term antibiotherapy. Supportive periodontal therapy was initiated with 4-month recall periods. We report the diagnosis process and the 9-year follow-up. RESULTS: Radiographs and a periodontal examination showed deep probing pockets and extensive alveolar bone resorption. Hematologic and immunologic investigations showed normal values. Peripheral blood smears showed giant granules in neutrophils and leukocytes characteristic of CHS. Clinical improvement was observed after the initial periodontal therapy. No periodontitis recurrence was noted over a period of 9 years. CONCLUSIONS: This case report shows that it is possible to treat periodontitis and maintain the periodontal health of a patient with a mild CHS phenotype over a long period. Patient compliance, regular dental follow-ups, and long-term systemic antibiotic treatments may be useful in stabilizing the periodontal condition of patients with CHS. Dentists must be aware that aggressive periodontitis, combined with general clinical signs, in young patients may reflect rare systemic disorders requiring biologic investigation.     

Sarcoidosis affecting the periodontium: a long-term follow-up case

BACKGROUND: Clinical manifestations of sarcoidosis affecting the periodontium could mimic aggressive periodontitis. This case report documents the occurrence of sarcoidosis affecting the periodontium, including its clinical features, diagnosis, treatment, and 6-year follow-up. METHODS: An individual with a history of pulmonary sarcoidosis was referred for evaluation and treatment of an aggressive periodontal condition. Clinical, radiographic, and histopathologic findings supported the diagnosis of sarcoidosis affecting the periodontium. Initial treatment consisted of reinforcement of oral hygiene, scaling and root planing, chlorhexidine rinses, and periodontal maintenance. The systemic disease was managed with prednisone, alendronate, and losartan. Twelve months later, the patient returned with severe attachment loss of sudden onset and gingival recession affecting the facial right surfaces of maxillary posterior teeth. In addition, he complained of chronic pain of moderate to severe intensity involving both jaws. The affected teeth were extracted and the surrounding alveolar bone was debrided. Intraoral sarcoidosis was confirmed by histologic findings, and his medications were changed to methotrexate and hydroxychloroquine. RESULTS: The patient has been followed for 6 years with continuation of the systemic medications and periodontal maintenance every 3 to 4 months without recurrence of intraoral sarcoidosis. CONCLUSIONS: The main features of this unique periodontal presentation were pain, rapidly progressive gingival recession, and significant changes in alveolar bone density in focal areas. Careful review of medical history and close monitoring of intraoral conditions are critical for patients with a history of sarcoidosis. An intraoral biopsy is necessary to confirm a definitive diagnosis in cases with similar clinical findings.     

Papillon-Lefevre syndrome: Report of two cases in the same family

Papillon-Lefevre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefevre syndrome in the same family, having all of the characteristic features, are presented. An 11-year-old girl and a 9-year-old boy presented with the complaints of loose teeth. Both expressed hyperkeratosis of palms, soles, and knees. Severe generalized periodontal destruction, with mobility of teeth, was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.     

Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome

BACKGROUND: Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive disease characterized by palmoplantar hyperkeratosis and severe periodontitis affecting both primary and secondary dentitions. Cathepsin C (CTSC) gene mutations are etiologic for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. METHODS: A 4-year-old female (case 1) and her 10-year-old sister (case 2) presented with palmoplantar skin lesions, tooth mobility, and advanced periodontitis. Based on clinical findings, the cases were diagnosed with PLS. Mutational screening of the CTSC gene was conducted for the cases, and their clinically unaffected parents and brother. Biochemical analysis was performed for CTSC, cathepsin G (CTSG), and elastase activity in neutrophils for all members of the nuclear family. The initial treatment included oral hygiene instruction, scaling and root planing, and systemic amoxicillin-metronidazole therapy. RESULTS: CTSC mutational screening identified a c.415G>A transition mutation. In the homozygous state, this mutation was associated with an almost complete loss of activity of CTSC, CTSG, and elastase. Although monthly visits, including scaling, polishing, and 0.2% chlorhexidine digluconate irrigation were performed to stabilize the periodontal condition, case 1 lost all her primary teeth. In case 2, some of the permanent teeth could be maintained. CONCLUSIONS: This report describes two siblings with a cathepsin C gene mutation that is associated with the inactivity of cathepsin C and several neutrophil serine proteases. The failure of patients to respond to periodontal treatment is discussed in the context of these biological findings.     

Prepubertal Periodontitis Affecting the Deciduous and Permanent Dentition in a Patient With Cyclic Neutropenia: A Case Report and Discussion

Neutropenia is a transient or chronic blood disorder characterized by a decrease in the number of circulating polymorphonuclear leukocytes (PMNs). Neutrophils are a major cellular defense against infection, and depletion of these cells is potentially fatal. Stomatitis and gingivitis frequently are seen in patients with neutropenia. Therefore, the diagnosis of severe oral pathoses of obscure origin must include a differential white blood cell count. The importance of the dentist's role is dramatically illustrated in the rare case reported here, since the oral condition was the reason for this patient's definitive blood work-up. The report illustrates the importance of the laboratory assessment in dental patients with unusual periodontal destruction or other inexplicable oral changes.     

Unilateral severe chronic periodontitis associated with ipsilateral surgical resection of cranial nerves V, VI, and VII

BACKGROUND: The central and peripheral nervous systems participate in several local physiological and pathological processes. There is experimental evidence that the inflammatory, local immune, and wound healing responses of a tissue can be modulated by its innervation. The aim of this clinical report is to present a case of unilateral severe periodontitis associated with ipsilateral surgical resection of the fifth, sixth, and seventh cranial nerves and to discuss the possible contribution of the nervous system to periodontal pathogenesis. METHODS: A 39-year-old female patient with a history of a cerebrovascular accident caused by a right pontine arteriovenous malformation and destruction of the right fifth, sixth, and seventh cranial nerves was diagnosed with severe chronic periodontitis affecting only the right maxillary and mandibular quadrants. The patient's oral hygiene was similar for right and left sides of the mouth. Percentages of tooth surfaces carrying dental plaque were 41% and 36% for right and left sides, respectively. Non-surgical and surgical periodontal therapy was performed, and the patient was placed on a regular periodontal maintenance schedule. RESULTS: Healing following initial periodontal therapy and osseous periodontal surgery occurred without complications. Follow-up clinical findings at 1 year revealed stable periodontal health. CONCLUSIONS: This case report suggests that periodontal innervation may contribute to the regulation of local processes involved in periodontitis pathogenesis. It also suggests that periodontal therapy can be performed successfully at sites and in patients affected by paralysis.     

Combined endodontic and surgical management of a mandibular lateral incisor with a rare type of dens invaginatus

Dens invaginatus is a developmental malformation of teeth that most commonly affects permanent maxillary lateral incisors. Presence of dens invaginatus in mandibular permanent teeth is relatively rare. The purpose of this report is to describe the combined nonsurgical and surgical management of a mandibular lateral incisor associated with a rare type of dens invaginatus. Pulp involvement of the malformed tooth, periapical abscess, and severe periodontal destruction were observed. The signs (sinus tracts) and symptoms ceased after completion of the treatment. Satisfactory healing of the periradicular lesion was observed at the 6-month and 2-year follow-up examinations.     

Necrotizing periodontitis as a possible manifestation of common variable immunodeficiency

Common variable immunodeficiency (CVID) is an inherited disease characterized by hypogammaglobulinaemia and impaired humoural immunoresponse and is mainly associated with recurrent infections of the airway and the digestive tract. An 18-year old female with a diagnosis of CVID associated with a devastating necrotizing periodontitis, ultimately resulting in complete destruction of the periodontium and loss of all teeth, is reported. Clinical, biochemical, microbiological and radiographic examinations are presented. The report highlights the likely importance of immunoglobulin replacement and intensive dental hygiene in CVID patients, and the devastating effect of non-compliance in such patients.     

Periodontal manifestations of the heritable Mac-1, LFA-1, deficiency syndrome. Clinical, histopathologic and molecular characteristics

The clinical, histopathologic and functional consequences of the genetic deficiency of leukocyte Mac-1, LFA-1 and p150,95 were assessed among three affected patients, heterozygotes and unaffected individuals among two generations of a single kindred. Longitudinal assessments of this family afforded the unique opportunity to characterize the natural history of severe periodontal manifestations associated with this disorder. Features uniformly observed among each patient included recurrent, necrotic soft tissue infections, impaired pus formation, delayed wound healing, constant granulocytosis, severe abnormalities of adhesion-dependent granulocyte functions and a profound deficiency (3%-6% of normal) of Mac-1 glycoproteins on granulocyte surfaces. Characteristic features of generalized prepubertal periodontitis including rapidly progressive alveolar bone loss affecting the primary and permanent dentitions (leading to premature tooth loss), recession, clefting and migration in association with intense gingival inflammation were uniformly observed. Biopsies of inflamed periodontal tissues in these individuals demonstrated dense infiltrates of mononuclear leukocytes but a striking absence of extravascular neutrophil granulocytes. Heterozygous family members demonstrated approximately half normal Mac-1 protein expression but no susceptibility to systemic infections and normal, adhesion-dependent leukocyte functions. Prepubescent heterozygotes demonstrated no periodontal manifestations but a 31-year-old heterozygous female exhibited clinical and radiographic features typical of postjuvenile periodontitis. The profound periodontal manifestations recognized in this clinical-pathologic model emphasize the physiologic importance of leukocyte adhesion reactions in defense of the periodontium and further suggest a possible pathologic role for Mac-1 proteins in other forms of early-onset periodontitis.     

Palatal neurofibroma associated with localized periodontitis

BACKGROUND: Neurofibromatosis type 1 (NF1) is the most common form of neurofibromatosis. While typically considered a dermatologic disorder, intraoral signs of neurofibromatosis occur quite commonly. This clinical entity can be confused with periodontitis because of the presence of periodontal pockets. In this report, we present the case of a palatal neurofibroma with radiographic involvement in a patient with NF1. METHODS: A 40-year-old female patient was referred from her general dentist to evaluate advanced periodontitis in the maxillary left quadrant. The patient's medical history was significant for a soft tissue lesion excised from her back 11 years previously and diagnosed as a neurofibroma. Subsequent medical examination at that time confirmed a systemic diagnosis of NF1. A comprehensive periodontal evaluation was performed, and panoramic and periapical radiographs were taken. Teeth were tested for vitality. An incisional biopsy was completed for histopathologic examination. RESULTS: The periodontal evaluation revealed the presence of 6 to 9 mm probing depths adjacent to teeth #14 and #15. Panoramic and periapical radiographs showed a circumscribed 0.8x0.9-cm unilocular radiolucency superimposed over the root of tooth #13 and extensive horizontal bone loss on the distal side of #15. Incisional biopsy confirmed the presence of a neurofibroma, and because of the extent of the lesion, the patient was referred to the Oral and Maxillofacial Surgery service for complete excision. CONCLUSIONS: Neurofibromas can cause extensive destruction of alveolar bone, mimicking periodontitis. Due to the potential systemic and genetic implications, the diagnosis of neurofibroma requires appropriate medical referral.