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Vitamin D-dependent rickets type I (VDDRI) represents an autosomal recessive hereditary defect in vitamin D metabolism. Patients with VDDRI have mutations of chromosome 12 that affect the gene for the enzyme 1-alpha-hydroxylase, resulting in decreased levels of 1,25(OH)(2) vitamin D. Clinical features include growth failure, hypotonia, weakness, rachitic rosary, convulsions, tetany, open fontanels, and pathologic fractures. The oral and dental manifestations of VDDRI have not been described. Here we present the case of a 10-year-old girl affected by VDDRI, as established by the combination of clinical and radiographic findings, family history, and laboratory values. Dental examination revealed markedly hypoplastic, yellowish-to-brownish enamel in all permanent teeth, malocclusion, and chronic periodontal disease. Large quadrangular pulp chambers and short roots were evident in dental radiographs. Light microscopic and ultrastructural examination showed abnormalities of dental hard tissues, affecting both enamel and dentin. The differential diagnosis and treatment of VDDRI are discussed.

Four cases of central giant cell granuloma were treated with intralesional infiltration of a solution of Kenacort-A (10 mg/mL, triamcinolone aqueous suspension SQUIBB) and either (1) Lidocaine 2% with epinephrine 1:200,000 Marcaine or (2) Bupivacaine, 50% mixture by volume. These cases were originally diagnosed by radiographic and histologic studies in 3 Guatemalan males—ages 31, 34, and 6 years old—and a 2 ½-year-old Guatemalan girl. The average dosage of the aforementioned solution was 6 mL (equivalent to 30 mg of triamcinolone) for the adults and 5 mL (equivalent to 25 mg of triamcinolone) for the pediatric patients. Before treatment, an endocrinologist evaluated all of the patients to rule out hyperparathyroidism. Also before treatment, an incisional biopsy of the lesion was obtained from each patient for microscopic examination. Follow-up radiographs for all the cases showed progressive improvement and eventual resolution of the lesions. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002;93:161-6)

A 5-year-old boy presented with otodental syndrome. His maxillary and mandibular incisors were within normal limits. The premolar/molar areas in all quadrants were occupied by markedly macrodontic teeth showing globular shape. The canines had a similar rounded shape. Two canines and 1 of the other abnormal teeth demonstrated areas of yellow hypoplastic enamel. Radiographs revealed that some of the abnormal teeth had bifurcated pulp chambers and pulp stones. Premolar tooth germs were absent. Audiometry demonstrated that the child had a marked bilateral sensorineural hearing loss for frequencies above 1000 Hz. No other members of the immediate family were clinically affected. The parents of the child were not aware of any similarly affected relatives. Suggestions with respect to possible genetic mechanisms and gene participation in the etiology of this syndrome are offered.

Objective The aim of this study was to verify the practices and attitudes of senior dental students about infection control procedures. Methods A cross-sectional survey was performed during the 1st semester of 2003. Open- and close-ended questions were given to 196 students in 6 universities. Results Overall, 90.8% of students had been vaccinated for hepatitis B. Only 25.0% have been assessed for anti-HBs. A total of 99.5% students reported always using gloves for all procedures. Eye protection were always used by 84.2% of students, and all the students used face masks for all procedures. Caps or hair covers were used by 92.3% of students and 87.8% reported no objection to treating patients with infectious diseases. Among instructors, the students observed that 60.2% of them did not use gloves for all procedures, 43.4% of those didn't change gloves between patients. Conclusions These results address the need for an improved quality assurance, in order for the students and faculty to improve their practices and attitudes on infection control measures.

Respiratory scleroma (rhinoscleroma) is a chronic granulomatous infection produced by Klebsiella rhinoscleromatis, a gram-negative aerobic coccobacillus. This disease is endemic to Africa, Central and South America, South Central and Eastern Europe, the Middle East, and China. Sporadic cases have been reported in the United States, especially in persons who migrated from the aforementioned areas. The majority of cases affect the nose, but extension to the soft and hard palate, upper lip, and maxillary sinuses also is frequent. This study comprises 11 patients (6 females and 5 males) with respiratory scleroma identified over a 6-year period in Guatemala. Their ages ranged from 16 to 60 years. Light microscopy showed a dense plasmacytic infiltrate, Mikulicz histiocytes, and Russell bodies within the plasma cells. Ultrastructural study revealed Mikulicz histiocytes, cytoplasmic vacuoles containing bacilli, and so-called A and B granules. We favor the term respiratory scleroma for this lesion because it affects not only the nose but also the upper and lower respiratory tracts as well as the mouth.

Tooth development is under strict genetic control and is mediated by epithelio-mesenchymal interactions between first pharyngeal arch oral ectoderm and ectomesenchymal cells originating from cephalic neural crest. Signalling molecules of the main developmental pathways (Tgfβ, Shh, Wnt, Fgf, Notch, etc.) and transcription factors are involved.

Several developmental pathways and associated genes and relevant proteins are involved in diseases such as tumourigenesis and progression of cancer. We chose to illustrate this gene/protein multiple involvement through the description of two conditions: Gorlin syndrome and Cherubism.

Missing teeth are now considered as developmental anomalies related to patterning issues and linked to genetic defects disrupting major signalling pathways involved in tooth development, ectoderm homeostasis and epithelio-mesenchymal interactions. Moreover dental agenesis could be a trigger sign to unravel broader medical conditions in association with clefting, for example, or even with cancer susceptibility. Anomalies of tooth number are often associated with anomalies of tooth shape and size and linked to issues related to the number of dental cells, their spatiotemporal location and their functional activity. Many rare diseases include in their clinical spectrum missing teeth. Transgenic mouse models, displaying missing teeth, were key partners to discover new genes involved in human hypodontia/oligodontia.

Anomalies of teeth eruption relate to the timing of the arrival of teeth within the oral cavity whether the primary or permanent dentition with early, premature or delayed eruption. Impaired or absence of eruption can also be seen. The pattern of eruption can also be totally disrupted. They can also relate to the lack (ankylosis) or accelerated shedding of deciduous teeth.

Dental enamel is a highly mineralized tissue with 85% of its volume occupied by unusually large, highly organized, hydroxyapatite crystals. Enamel is unique among the mineralized tissues in that it is produced by the ameloblasts, specialized cells with an ectodermal origin.

Developmental anomalies affecting the dentine are always genetic and heritable. They represent a group of diseases characterized by colour, shape, size and structure anomalies affecting the dentine but sometimes also the enamel. The full diagnosis is made through clinical and radiographic examination besides medical, dental and family history. They may sometimes be associated with other features in syndromes. One major gene DSPP has proven to be associated with dentinal defects restricted to the oral cavity therefore demonstrating that dentinogenesis imperfecta and dentine dysplasias are indeed allelic conditions. DSPP gene mutations have also been found in association with progressive hearing loss. Other syndromes, some of them related to collagen defects, encompass in their clinical features, dentine defects.

Anomalies of tooth shape and size can affect one tooth, a group of teeth or the whole dentition and concern the crown, the root or even the whole tooth. They may even be associated. They are often spectacular in their deviation from the norm. They may represent specific trigger signs orientating the clinical diagnosis in association with other features in syndromes. Isolated they may be difficult to label and represent challenging therapeutic management issues.

Epidemiological studies have confirmed that respiratory complications are collectively the leading cause of pediatric anesthetic-related morbidity and mortality Perioperative pulmonary complications associated with sedation and/or general anesthesia include obstruction, atelectosis, aspiration, pneumonia, bronchitis, laryngospasm, bronchospasm, hypoxemia and respiratory failure. This review discusses congenital conditions characterized by potentially diff cult airway management, and proposes treatment considerations to prevent adverse events in these patients. The importance of patient evaluation prior to sedation and general anesthesia is emphasized. Knowledge of normal and abnormal head and neck anatomy and its influence on maintaining airway potency during routine and emergency procedures is necessary in providing safe and high-quality care for young and adolescent patients.

Dens in dente, also known as dens invaginatus and dilated compound odontoma, is a malformation that can occur on primary, permanent, or supernumerary teeth that is characterized by a deep invagination of the surface of a crown or root covered with enamel. This abnormality in tooth morphology generally affect the maxillary lateral incisors but several cases of multiple dens invaginatus have been reported in the literature. A 15 year-old female patient is reported here presenting five dens invaginatus: four in the permanent mandibular incisors and one in the permanent, maxillary left central incisor, additionally the following dental findings were observed: a permanent mandibular left mulberry molar, molarization of some premolars, several microdontic conoid teeth, retention of five primary teeth, absence of several permanent teeth germs, a macrodontic molar with abnormal roots and several periapical radiolucencies associated to the dens invaginatus. There was no family history of similar dental findings to those observed in the patient. There are several genes that participate in the development of teeth, of those, the following five genes could be implicated as responsible or co-participators for some of the dental anomalies present in this patient: MSX1 (Muscle segment homeobox 1), DLX1DLX2 (Distal-less homeobox 12 genes), PAX9 (Paired box gene) and PITX2 (Pituitary homeobox transciption factor 2).

The objective of this study was to investigate the prevalence of intraoral findings and other minor developmental malformations in newborns from San Luis Potosi, Mexico.Study subjects were neonates born in San Luis Potosi Morones Prieto Hospital between September 1989 and February 1990. All subjects are examined at this hospital within 20 hours of birth. Premature babies or those requiring intensive care were excluded. Examinations are performed by a team consisting of a geneticist, an oral pathologist, 2 dentists, and an oral surgeon using mirrors, tongue blades, and a flashlight.The team examined 2,182 neonates and found a frequency of 99% for congenital oral cysts, 2% for natal teeth, 11% for ankyloglossia, 8% for commissural lip pits, and 54% for congenital vascular malformations. The male/female ratios for ankyloglossia and natal teeth were 1.5:1 and 1:2.3, respectively.Babies born at the same hospital demonstrated a high rate of oral cysts, natal teeth, ankyloglossia, and commissural lip pits.

The purpose of this article is to describe the clinical features of otodental syndrome. A 9-year-old boy presented with dental abnormalities that have been described for otodental syndrome. The characteristic findings included large bulbous crowns in canine and molar teeth of both dentitions, deep vertical enamel fissures separating the cusps of affected molars, and hypoplastic yellow areas on the labial surfaces of the canines. Radiographs revealed the abnormal molars to possibly be the product of fusion of multiple tooth buds. The pulp chambers appeared to be duplicated, and possibly a supernumerary tooth or complex odontoma is present.

Multifocal papilloma virus epithelial hyperplasia is an infection of the oral mucosa produced by human papilloma virus types 13 and 32, which primarily bilaterally affects lips, lateral borders of tongue, and buccal mucosa. The attached oral mucosa, floor of mouth, soft palate, and oropharynx are sites that appear not to be affected. This study comprises 110 patients with multifocal papilloma virus epithelial hyperplasia identified over a period of 3 years in Guatemala City and neighboring rural areas. All but four patients were younger than 18 years of age. More than one affected patient was observed in several families. All but three cases occurred in patients living in extreme poverty (annual family income less than $1,200 in U.S. dollars). Biopsies of 60 lesions demonstrated acanthosis and nuclear degeneration within the epithelium. We suggest that the eponym Heck's disease be abandoned because this disease was described in the Latin-American literature before the initial description in the American literature. We propose the term multifocal papilloma virus epithelial hyperplasia, which best describes the nature and multifocality of this disease.

The clinical, pigmentary, and ceroid storage manifestations of the Hermansky-Pudlak syndrome (HPS) triad of albinism, hemorrhagic diathesis, and ceroid storage disease are variable. Therefore, a rapid and accurate method of diagnosing HPS is needed. Platelets of 66 albinos were examined by electron microscopy for the presence or absence of dense bodies. Results show that patients reexamined over a period of 1 year had consistent findings. Those lacking dense bodies (15) when first examined also lacked dense bodies when reexamined a year later, and they had evidence of ceroid storage. Those with dense bodies when first examined (8) also had dense bodies when reexamined, did not have evidence of storage disease, and had types of albinism other than HPS. Of 20 propositi lacking dense bodies, all 32 albino relatives also lacked dense bodies, while 6 albino relatives of 6 propositi with dense bodies also had dense bodies in their platelets. The evidence supports the concept that HPS is a distinct genetic and biochemical disease in which the components of the triad are the result of a single genetic defect, either a point mutation or a small deletion. Comparison of whole mount preparations with thin section preparations of 13 albinos shows that whole mount preparations are an accurate and rapid method for diagnosing HPS. The most consistent diagnostic feature of HPS is lack of platelet dense bodies.

Several new “syndromes” have been described that have in common facial findings identical or similar to those seen in frontonasal malformation (FNM), previously termed frontonasal dysplasia. Some of those new syndromes are inherited, whereas FNM is an isolated finding. Thus there is a need for differentiation among those conditions. A review of the literature was undertaken to identify and classify the various reports that describe FNM as it occurs alone and in association with a syndrome.

A case of aneurysmal bone cyst (ABC) of the mandible, recurring for the third time and arising in conjunction with fibrous dysplasia, is reported. A comprehensive review of the literature and analysis of over 50 cases of ABC of the jaws yielded the following results: ABCs of the jaws constitute 1.5 % of all non-odontogenic and non-epithelial cysts of the jaws, and 1.9 % of all ABCs of the skeleton. The mandible was affected in 55 % of the cases, the maxilla in 45 % of the patients. Females represented 53 % of the patients and males the remaining 47 %. Seventy-four percent of the ABCs occurred in patients 20 years old and younger. This lesion is regarded as non-neoplastic and as most likely secondary to a pre-existing bone lesion. Our review established that 21 % of the reported cases in the jaws had developed in association with various primary lesions of bone, including fibro-osseous lesions. The primary bone lesion initiates an osseous, arteriovenous fistula which, through its hemodynamic forces, creates a secondary reactive lesion, that is an aneurysmal bone cyst. We also established a recurrence rate of 26 %, based upon previously reported cases as well as our own. The treatment of choice is surgical curettage with cryosurgery and immediate packing with bone chips.

A total of 32,022 Mexican children (16,473 boys, 15,549 girls) were examined for several congenital oral and paraoral anomalies. The findings for commissural lip pits (boys 53.1, girls 52.4 per 1000) are less than those reported for adults. This may indicate that pits become accentuated with age. Fordyce granules were seen with a prevalence of 1.2 per 1000. This is in contrast to the reported 85.6% prevalence for the adult population, also possibly reflecting increased manifestation with increased age. Our data for exogenous tooth pigmentation show increased prevalence with age (group I [5 to 10 1/2 years], 9.8%, versus group II [10 1/2 to 14 1/2 years], 12.9%), possibly indicating decrease in attention to oral hygiene. The prevalence of talon cusp was found to be 0.6 per 1000, and for ankyloglossia 8.3 per 1000. Prevalence values for bifid tongue are reported for the first time, indicating one affected per 187 children examined. The prevalence of fissured tongue (15.7%) shows a statistically significant difference between boys (16.8%) and girls (14.5%). The prevalence of geographic tongue (1.9%) shows a marked difference between group I (2.2%) and group II (1.2%).

Autosomal dominant cemental dysplasia is the term chosen to describe what is considered to be a new entity affecting cementum and neighboring bone. The condition was present in ten members of the same family, segregating as an autosomal dominant trait. A review of the literature failed to demonstrate previously reported cases. The name was chosen because microscopic evidence and clinical location of the changes observed point to cementum as the affected tissue.

In many genetic diseases and syndromes the involvement of the structures of the mouth is only a small part of the overall picture of multiple systemic involvement with a wide range of symptoms, congenital defects and deficiencies. The combinations of features in some of the syndromes give affected persons a distinctive, unforgettable appearance.

The name of popliteal pterygium syndrome is suggested for a well defined complex that consists of popliteal pterygium (usually bilateral), intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, valgus or varus deformities of the feet and syndactyly, genitourinary anomalies (such as cryptorchidism, absent or cleft scrotum, inguinal hernia, hypoplasia or aplasia of the labia majora, and oral anomalies (such as cleft lip-palate, syngnathia and lower labial pits). There may also be filiform adhesion of the eyelids. This syndrome is but one of perhaps 20 or more that involve clefting of the lip and/or palate. It is inherited as an autosomal dominant trait with variable expressivity. Rarely is it transmitted from affected parent to offspring due to genital hypoplasia. The authors point out the importance of the awareness of the surgeon who corrects the popliteal pterygium since the sciatic nerve runs beneath the fibrous septum that forms the free edge of the pterygium.

The first reported case of giant osteoid osteoma occurring in the maxilla has been reported. The patient, a 21-year-old mulatto man, had a local recurrence 5 months after the initial surgical treatment. Wider excision is suggested to prevent the local recurrence of this tumor.

An analysis of 17 cases of the syndrome of multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid is presented and its relationship to similar syndromes discussed. The mucosal neuromas primarily involve the lips, anterior tongue, conjunctiva and nasal and laryngeal mucosa. Medullated corneal nerve fibers traverse the cornea and anastomose in the pupillary area. A Marfanoid build and diverticulosis may be associated findings.

During the last 10 years, there has been considerable progress in the knowledge of epidermolysis bullosa, which has led to recognition of at least 18 different varieties. This review article attempts to classify these varieties and to emphasize the orodental findings in patients with epidermolysis bullosa.

This chapter discusses systemic inherited disorders with dental involvement. It discusses acroosteolysis, amelocerebrohypohidrosis syndrome, cryptodontic brachymetacarpalia, hypodontia and nail dysgenesis, hypophosphatasia, hypophosphatemic vitamin D-resistant rickets, hypoplastic-hypocalcified enamel, onycholysis, functionali hypohidrosis, incontinentia pigmenti, oculodentoosseous dysplasia, otodental syndrome, pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism, and rothmund−thomson syndrome among others. Acroosteolysis, which has an autosomal dominant mode of inheritance, is characterized by short stature, disintegration of the terminal phalanges of fingers and toes, abnormal skull shape, and premature loss of teeth. The Amelocerebrohypohidrosis syndrome is characterized by the following features: (1) severe seizures, (2) progressive mental retardation, (3) muscular spasticity, (4) hypohidrosis, and (5) enamel hypoplasia. There is marked hypoplasia of enamel, resulting in complete absence, except for small zones of thin enamel at cervix of the tooth crowns. The enamel defect is generalized and involves all teeth in both primary and secondary dentitions.

Eight cases from a series of 75 odontomas were found to contain ghost cell epithelium. Clinical, radiologic and histologic findings in these cases did not differ significantly from those of odontomas in general. The results obtained with several staining methods, including rhodamin B under fluorescent light, suggest that the ghost cells represent different stages in the process of ortho-, para- and aberrant keratin formation. Ghost cells should be viewed as the product of metaplastic transformation of the odontogenic epithelium with no significance for the prognosis and treatment of odontomas.

A total of 6,180 Argentinian school-age children were examined clinically for the presence of oral congenital anomalies. The following prevalence figures were found: commissured lip pits (0.7%), ankyloglossia (0.1%), geographic tongue (1.5%), localized enamel hypomaturation (2.8%), median rhomboid glossitis (0.10/00), torus palatinus (0.30/00) and dentinogenesis imperfecta (0.30/00). Data are presented for the first time on snowcap amelogenesis imperfecta with a prevalence value of 0.1%.

This chapter discusses some of the various systemic inherited disorders involving oral or perioral soft tissue involvement. Acrodermatitis enteropathica is rare and is characterized by skin lesions, hair loss, nail changes, and gastrointestinal disturbances. Acrodermatitis enteropathica generally becomes manifest between three weeks and ten years of age and is only occasionally seen in adults. The lips and perioral skin are affected. Pustular formation at the angle of the mouth is almost always complicated with deep fissuring. Bloom syndrome is inherited in an autosomal recessive manner. It has an increased incidence among Jews of Eastern-European extraction. Parental consanguinity, while higher among non-Jews, is no greater among Jews, indicating the rarity of the gene among the former. The Chediak–Higashi syndrome is manifested by defective pigmentation, large eosinophilic, peroxidase-positive inclusion bodies in myeloblasts and promyelocytes of the bone marrow, neutropenia, and susceptibility to infection and malignant lymphoma. The syndrome is inherited in an autosomal recessive manner.

This chapter discusses some of the systemic inherited disorders that are associated with facial clefting. The syndrome of cleft lip-palate and congenital lip pits has been recognized for over 100 years. The condition is transmitted as an autosomal dominant condition with 80% penetrance of any component of the syndrome. The syndrome is seen with a frequency of about 1 in 75,000–100,000 live births and affects both sexes equally. The cleft lip-palate and tetraphocomelia syndrome consists of cleft lip-palate, tetraphocomelia with a reduction in digit number, exophthalmus and ocular hypertelorism, and deficient growth. The facies is characterized by ocular hypertelorism, exophthalmos, and usually bilateral cleft lip palate.