Odontogenic tumors in Nigerian children and adolescents- a retrospective study of 92 cases

BACKGROUND: Tumours arising from odontogenic tissues are rare and constitute a heterogenous group of interesting lesions. The aim of this study was to determine the relative frequency of odontogenic tumors (OT) among Nigerian children and adolescents 19 years or younger. PATIENTS AND METHODS: The histopathology records were retrospectively reviewed for all the tumors and tumor-like lesions of the oral cavity and the jaws seen in children and adolescents ≤ 19 years seen between January 1980 and December 2003. Hematoxylin and eosin-stained sections were re-evaluated and the diagnosis in each case was confirmed or modified according to World Health Organization (WHO) classification, 1992; and were subjected to analysis of age, sex, site of tumor and histopathologic type. RESULTS: A total of 477 tumors and tumor-like lesions were seen in patients ≤ 19 years during the period of the study. Of these, 92 (19.3%) were odontogenic tumors. Benign odontogenic tumors constituted 98.9% of the cases seen, while only 1 case (1.1%) of malignant variety was seen during the period. The mean (SD) age of patients was 14.9 (± 3.1) years (range, 4–19 years). Male-to-female ratio was 1:1; and mandible-to-maxilla ratio was 2.7:1. OT's were most frequently seen in patients aged 16–19 years (46.7%) and the least number (2.2%) were found in patients aged 0–5 years. Among nine histologic types of OT seen, ameloblastoma (48.9%), adenomatoid odontogenic tumor (19.6%) and odontogenic myxoma (8.7%) were predominant. Multicystic/solid and unicystic variants of ameloblastoma were diagnosed in 40 (89%) and 5 (11%) cases respectively. CONCLUSIONS: Odontogenic tumors are relatively common in children and adolescents in Nigeria. One out of every 5 children and adolescents with tumors and tumor-like lesions of oral cavity and the jaws seen in this study had a diagnosis of odontogenic tumor

Novel <i>IRF6 </i>mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa

Orofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (OMIM) database, of which Van der Woude syndrome (VWS) is one of the most common (accounting for 2% of all OFC). Popliteal pterygium syndrome (PPS) is considered to be a more severe form of VWS. Mutations in the IRF6 gene have been reported worldwide to cause VWS and PPS. Here, we report studies of families with VWS and PPS in sub-Saharan Africa. We screened the DNA of eight families with VWS and one family with PPS from Nigeria and Ethiopia by Sanger sequencing of the most commonly affected exons in IRF6 (exons 3, 4, 7, and 9). For the VWS families, we found a novel nonsense variant in exon 4 (p.Lys66X), a novel splice-site variant in exon 4 (p.Pro126Pro), a novel missense variant in exon 4 (p.Phe230Leu), a previously reported splice-site variant in exon 7 that changes the acceptor splice site, and a known missense variant in exon 7 (p.Leu251Pro). A previously known missense variant was found in exon 4 (p.Arg84His) in the PPS family. All the mutations segregate in the families. Our data confirm the presence of IRF6-related VWS and PPS in sub-Saharan Africa and highlights the importance of screening for novel mutations in known genes when studying diverse global populations. This is important for counseling and prenatal diagnosis for high-risk families

Novel <i>GREM1 </i>Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate

Objective: Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate. Patients and Method: We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses of the sequence data, we observed 2 novel coding variants in GREM1. These variants were not found in the 192 African controls and have never been previously reported in any public genetic variant database that includes more than 5000 combined African and African American controls or from the CL/P literature. Results: The novel variants include p.Pro164Ser in an individual with soft palate cleft only and p.Gly61Asp in an individual with bilateral cleft lip and palate. The proband with the p.Gly61Asp GREM1 variant is a van der Woude (VWS) case who also has an etiologic variant in IRF6 gene. Conclusion: Our study demonstrated that there is low number of etiologic coding variants in GREM1, confirming earlier suggestions that variants in regulatory elements may largely account for the association between this locus and CL/P. </jats:sec

Cleft deformities in adults and children aged over six years in Nigeria: Reasons for late presentation and management challenges

Wasiu L Adeyemo1, Mobolanle O Ogunlewe1, Ibironke Desalu2, Akinola L Ladeinde1, Bolaji O Mofikoya3, Michael O Adeyemi4, Adegbenga A Adepoju4, Olufemi O Hassan41Department of Oral and Maxillofacial Surgery, Faculty of Dental Sciences, 2Department of Anaesthesia, 3Department of Surgery, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria; 4Department of Oral and Maxillofacial Surgery, Lagos University Teaching Hospital, Lagos, NigeriaAbstract: In developing countries, untreated cleft lips and palates are found with increasing frequency and patients often present to the surgeon far past the optimal time for closure of the cleft deformities. A prospective study was conducted between March 2007 and September 2009, to identify the reasons and treatment challenges of delayed presentation of cleft lip and palate deformities at the Lagos University Teaching Hospital, Nigeria. Out of a total of 150 patients with cleft defects during the period, 43 (28.7%) were adults and children aged over six years. The mean age of these patients at the time of presentation was 17.3 years. The most common reasons for late presentation were lack of money (56.7%), lack of health care services nearby (18.4%), and lack of awareness of treatment availability (13.3%). Common challenges in these patients included surgical, orthodontic, speech, anesthetic, and psychological. Although adult clefts were significantly enlarged in three dimensions the anatomic landmarks were easier to discern than in an infant. However, extensive soft tissue dissection in adult cleft lip repair resulted in significant postoperative edema. Closure of wide palatal cleft often required the use of adjunct intraoral flaps. Despite late presentation, surgical outcome of these patients was satisfactory and comparable to cleft repair in infants.Keywords: cleft deformities, adults, adolescents, late presentation, management, challenge

Van der Woude syndrome: A review of 11 cases seen at the Lagos University Teaching Hospital

Background: Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene. It is reported to be the most common syndromic cleft world-wide. Non-penetrance for the lip pit phenotype is found in at least 10% of affected individuals and those without the pits are phenocopies for non-syndromic clefting. The aim of this study is to present the phenotypic characteristic of VWS seen at the Lagos University Teaching Hospital (LUTH) cleft clinic. Materials and Methods: A review of cases of patients with VWS that attended the cleft lip and palate clinic at the LUTH Idi-Araba, Lagos, from January 2007 to December 2012 was conducted. Data analyses included sex of affected patients, types of cleft, presence of lower lip pits and history of lower lip pits/cleft in the family. Results: A total of 11 cases were seen during the period (male = 4; female = 7). Age at presentation ranged between 1 week and 12 years, with majority (n = 10) less than 2 years of age. Bilateral cleft lip and palate (BCLP) was seen in six patients, isolated soft palatal cleft (n = 3) and unilateral cleft lip and alveolus (n = 1) and cleft of hard and soft palate (n = 1). Bilateral lower lips were presented in 10 out of the 11 cases. The mother of the only patient without lip pits presented with bilateral lower lip pits. No family history of cleft/lip pits was elicited in 10 other cases. Conclusion: Most of the cases of VWS presented with BCLP and lower lip pits. Non-penetrance for the lip pits was seen in one out of 11 cases. Our study emphasizes the need to screen family members in all cleft cases, especially clinically diagnosed non-syndromic cases who may be VWS with no lip pits. Future studies are required to investigate the genetic causes of this syndrome in our population

Oral health-related quality of life following non-surgical (routine) tooth extraction: A pilot study

Aim: The study was designed to explore the changes in oral health-related quality of life (QoL) in the immediate postoperative period following routine (non-surgical) dental extraction. Setting and Design: A prospective study carried out at the Oral and Maxillofacial Surgery clinic of the Lagos University Teaching Hospital, Nigeria. Materials and Methods: Subjects attending who required non-surgical removal of one or two teeth under local anesthesia were included in the study. A baseline QoL questionnaire (oral health impact profile-14 [OHIP-14]) was filled by each patient just before surgery, and only those who were considered to have their QoL "not affected" (total score 14 or less) were included in the study. After the extraction, each subject was given a modified form of "health related QoL" [OHIP-14]-instrument to be completed by the 3 rd day-after surgery, and were given the opportunity to review the questionnaire on the 7 th day postoperative review. Results: Total OHIP-14 scores ranged between 14 and 48 (mean ± SD, 26.2 ± 8.3). Majority of the subjects (60%) reported, "a little affected." Only few subjects (5.8%) reported, "not at all affected," and about 32% reported, "quite a lot." Summation of OHIP-14 scores revealed that QoL was "affected" in 41 subjects (34.2%) and "not affected" in 79 subjects (65.8%). More than 30% of subjects reported that their ability to chew, ability to open the mouth and enjoyment of food were affected following tooth extraction. Few subjects (14-34%) reported deterioration in their speech and less than 20% of subjects reported that change in their appearance was "affected." Only few subjects (12.5-15.1%) reported sleep and duty impairment. Thirty-percent of subjects reported their inability to keep social activities, and 41% were not able to continue with their favorite sports and hobbies. Multiple regression analysis revealed no significant association between age, sex, indications for extraction, duration of extraction, intra-operative complications, and deterioration in QoL ( P < 0.05). Consumption of analgesics beyond postoperative day 1 (POD1) was more common in subjects with socket healing complications than those without ( P = 0.000). About 33% of subjects reported, "inability to work" (1-3 days). Conclusion: About a third of subjects experienced significant deterioration in QoL. The most affected domains were eating/diet variation and speech variation. Therefore, patients should be informed of possible deterioration in their QoL following non-surgical tooth extraction