Otodental syndrome: a case report and genetic considerations.

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: a clinicopathologic and ultrastructural study.

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.

Multifocal papilloma virus epithelial hyperplasia.

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.

Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

Five types of oculocutaneous albinism and two types of ocular albinism were found among 349 Puerto Rican albinos. The most prevalent type of albinism was the Hermansky-Pudlak syndrome (HPS). HPS was observed in five of every six albinos in Puerto Rico. The prevalence of HPS was highest in the northwestern quarter of the island, affecting approximately one in 1,800 persons, and approximately one in 22 are carriers of the gene. HPS is an autosomal recessively inherited triad of a tyrosinase-positive type of albinism, a hemorrhagic diathesis due to storage pool deficient platelets and accumulation of ceroid in tissues. The pigmentary phenotype of HPS albinos resembled that of any other type of oculocutaneous or ocular albinism. The most reliable method of diagnosing HPS is by a deficiency of platelet dense bodies observed by electron microscopy. The accumulation of ceroid in the tissues is associated with fibrotic restrictive lung disease and granulomatous enteropathic disease. The enteropathic disorder resembles Crohn's disease and with few exceptions, had its onset after 13 years of age. The major causes of death were fibrotic restrictive pulmonary disease, hemorrhagic episodes and sequelae of granulomatous enteropathic disease. Menometrorrhagia was common in women with HPS. No immune deficiency was found in HPS patients. The majority of patients with HPS had visual acuities of 20/200 or worse and consequently were legally blind. Albinos of all types, including HPS, lacked binocular vision due to nearly complete crossing of the optic tracts.

Clinical orodental abnormalities in Mexican children.

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%).

Epidermolysis bullosa.

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.

Frontonasal malformation as a field defect and in syndromic associations.

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.

Acanthosis nigricans.

Acanthosis nigricans (AN) is a well-defined skin disorder characterized by velvety hyperkeratotic macules that can be accompanied by various degrees of pigmentation. Other manifestations of AN are marked papillomatous growths and deep skin markings. These changes can affect the entire skin but preferentially are observed in the axilla, neck, genitals, and oral cavity. The presence of AN around and within the oral cavity as well as its well-known association with internal malignant conditions, especially adenocarcinoma of the stomach, and/or its association with insulin resistance, has prompted this review article, which emphasizes the oral manifestations of AN.

Aneurysmal bone cyst of the jaws. Report of a case associated with fibrous dysplasia and review of the literature.

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.