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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.

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.

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.

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.