The Journal of Pediatric Dentistry Volume 31, Number 2/2006 123 Dental Findings and Treatment in Consanguinity Associated Congenital Chronic Familial INTRODUCTION A number of systemic factors have been documented as being capable of affecting the periodontium and/or treatment of periodontal diseases. Severe periodontal disease in children is frequently associated with congenital defects of haematological and/or immunological origin. Papillon-Lefevre syndrome, Langerhans cell histiocytosis, Chediak-Higashi syndrome, hypophosphatasia, neutropenia, and especially leukocyte adhesion defects are well known to be among these systemic conditions. 1-3 There is sufficient evidence that phagocytic cells, mainly polymor- phonuclear neutrophils, are important in maintaining periodontal health. Besides adhesion, chemotaxis, and phagocytic functions, defects may be present in the killing mechanisms of neutrophils reducing the host response and predisposing to recurrent severe bac- terial and fungal infections. 2 In addition to bacterial and fungal infec- tions, progressive periodontitis frequently develops in patients with chronic neutropenia who survive infancy. 3 Neutropenia is defined as a peripheral blood absolute neutrophil count (ANC) of less than 1500/ml. 4 Several factors may cause neu- tropenia, including decreased bone marrow production, increased destruction by immune mechanisms and increased clearance by reticuloendothelial system. Most patients have secondary neutrope- nia caused by infections, drugs, malignancy or hypersplenism. Congenital neutropenias are relatively uncommon. Severe congeni- tal neutropenia which is an inborn defect characterized by a neu- trophil cell-line specific impairment was defined by Kostmann. 5 Severe congenital neutropenia (Kostmann syndrome) is caused by a defect in the maturation process of neutrophilic precursors at the myeloid stage in bone marrow and life-threatening pyogenic infec- tions in the respiratory and gastrointestinal tract, genitourinary sys- tem, and skin are frequently observed. The estimated frequency of this disorder is approximately one to two cases per million with equal distribution for gender. 6 Other than Kostmann syndrome, there are a few more forms of congenital neutropenia such as “congenital chronic familial neutropenia”. All patients with severe neutropenia (ANC below 500 cells/ml) have to take antimicrobial and antifungal prophylactic treatments throughout their lifetime. Main components of this treatment are oral trimethoprim-sulphamethoxazole (TMP-SMX) and itracona- zole in prophylactic doses. However, management of neutropenia includes use of recombinant human granulocyte colony-stimulating factor (rhG-CSF), a glycoprotein which stimulates the survival, pro- liferation, differentiation, and function of neutrophil granulocyte progenitor cells and mature neutrophils. The recombinant protein resembles the natural factor, releasing the neutrophil reservoirs from the bone marrow to the peripheral bloodstream, thus elevating the neutrophil count 10 to 12-fold. Treatment with rhG-CSF prolongs life expectancy of congenital neutropenia patients and often reduces significantly the severity of gingivitis, periodontitis, and oral ulcera- tions. 7-9 Various oral features including gingival inflammation, gingival recession, tooth mobility, alveolar bone loss and early tooth loss that may affect both primary and permanent dentitions are frequently encountered in neutropenia. 7 Neutropenic ulceration is also common and may develop as the only major clinical manifestation. 10 The purpose of this report is to describe dental findings and treat- ment of an 11-year old male and a 5-year old female patient, chil- dren of first cousins, suffering from congenital chronic familial neu- tropenia. Dental Findings and Treatment in Consanguinity Associated Congenital Chronic Familial Neutropenia Nurcan Buduneli* / Dilsah Cogulu** / Levent Kardesler*** / Necil Kütükçüler***** 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. Key words: congenital chronic familial neutropenia, dental treatment, neutrophil defects, immunodeficiency J Clin Pediatr Dent 31(2):123-126, 2006 * Nurcan Buduneli DDS, PhD, Associate Professor Department of Periodontology, School of Dentistry, Ege University, Izmir, Turkey ** Dilsah Cogulu DDS, PhD Department of Pedodontics, School of Dentistry, Ege University, Izmir, Turkey *** Levent Kardesler DDS Department of Periodontology **** Necil Kütükçüler MD, Professor, Department of Paediatrics, School of Medicine, Ege University, Izmir, Turkey All correspondence should be sent to: Dr.Nurcan Buduneli, Department of Periodontology, School of Dentistry, Ege University, 35100-Bornova, Izmir, Turkey Fax: +90 232 388 03 25 e-mail: nurcan.buduneli@ege.edu.tr Downloaded from http://meridian.allenpress.com/jcpd/article-pdf/31/2/123/1748061/jcpd_31_2_x78245364736262k.pdf by Bharati Vidyapeeth Dental College & Hospital user on 23 July 2022