Oral manifestations of Ehlers-Danlos syndrome: report of case

First described in the beginning of this century, Ehlers-Danlos syndrome is a hereditary connective tissue disorder. This case report describes an 11-year-old girl who had frequent unexplainable bruises. During an initial orthodontic evaluation, characteristic symptoms were spotted, and a subsequent diagnosis made.     

Oral manifestations in myelodysplastic syndrome. Review of the literature and report of a case

Gingival hyperplasia in a patient with myelodysplastic syndrome is described. Gingival infiltration was the first sign of acceleration of a stable disease process and was followed by development of a more aggressive phase of chronic myelomonocytic leukemia that was not responsive to therapy. Oral and dental assessment of patients with the myelodysplastic syndromes should be a part of routine management.     

Oral manifestations and rehabilitation in Fraser syndrome: A case report

Fraser syndrome (FS) is a rare recessive autosomal genetic disorder characterized by multisystemic malformations typically comprising cryptophthalmos, syndactyly, and renal defects. We report the case of a 16‐year‐old patient who exhibited facial asymmetry, short roots, hypodontia, and malocclusion. Oral rehabilitation included orthodontics, exodontia, and osseointegrated dental implants to improve the patient's self‐esteem and eating function. We suggest short roots and hypodontia assessment in patients with FS.     

Oral manifestations of the Rieger syndrome: report of case

The Rieger syndrome is a rare, autosomal dominant disorder. It is characterized by defects of the anterior chamber of the eyes as well as developmental malformations of the dentition. A case is described that shows classic findings with emphasis on dental management. Oral abnormalities in the pedigree may also suggest subtle manifestations of the syndrome. Recognition of the dental anomalies may result in early diagnosis of the syndrome and prevent progressive visual loss.     

Oral manifestations of lipoid proteinosis: A case report and literature review

Lipoid proteinosis is an uncommon autosomal recessive metabolic disorder that presents in early life with hoarseness and pox-like acneiform scars involving the skin and mucous membranes. Previous studies have attributed the prevalence of lipoid proteinosis to consanguineous parents. This paper reports a classical case of lipoid proteinosis with oral manifestations but without a history of consanguinity.     

Oral findings in Noonan syndrome: report of a case

Oral findings in a case of Noonan syndrome in an 8-year-old Japanese male are reported. Examination of the patient revealed a narrow, high-arched palate and an anterior open bite. Cephalometric measurements showed a wide gonial angle, a large mandibular plane angle, a large Y-axis and long facial height. It is suggested that the patient had a skeletal open-bite malocclusion, which included an abnormal swallowing habit.     

Oral manifestations of alpha-mannosidosis: report of a case with ultrastructural findings

Alpha-mannosidosis is a rare storage disease with distinct biochemical, clinical, histological and ultrastructural features. The oro-facial findings in a 26-year-old man are described. Gingival and oral mucosal hyperplasias were studied using histology and transmission electron microscopy (TEM). The TEM findings were comparable to those of other tissues examined in previous reports, consisting of histiocytic cells containing storage vacuoles with fine reticule-granular material.     

Oral manifestations of renal osteodystrophy: case report and review of the literature

Renal osteodystrophy, characterized by uneven bone growth and demineralization, is described. Oral manifestations of the disorder are described, and the value of dental radiographs in early detection of renal osteodystrophy is noted. A case report of a patient with severe oral complications, which resulted from long-standing end-stage renal disease and secondary hyperparathyroidism, is presented. Giant cell lesions of hyperparathyroidism, referred to as brown tumors (which may be associated with pain and swelling), are the key clinical oral manifestations and are the most dramatic dental radiographic finding in patients with renal osteodystrophy. Bone changes may include loss of lamina dura, giant cell lesions of hyperparathyroidism, and bone demineralization. The dentist's role in detection, assessment, and treatment is stressed.     

Oral and maxillofacial manifestations of Gardner's syndrome associated with growth hormone deficiency: case report and literature review

Gardner's syndrome (GS) is a hereditary disorder inherited as autosomal dominant with complete penetrance and variable expression. GS is a variant of familial adenomatous polyposis characterized by extracolonic manifestations including osteomas, dental anomalies, and epidermoid cysts. The association between GS and endocrine abnormalities has been well documented but a direct pituitary involvement has never been reported. We present a case of oral and maxillofacial manifestations in an adult patient affected by GS associated with growth hormone deficiency, a hitherto unreported association. The possible pathogenic mechanisms are discussed.     

Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case

Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth.     

Oral,radiographical, and clinical findings in Weaver syndrome: a case report

Weaver syndrome is a rare condition characterized by accelerated growth, advanced osseous maturation, and distinct craniofacial features that can occur in both males and females. Etiology is unknown and no definitive oral characteristics have been established. The objective of this case report is to describe the oral and radiographic findings of a 14‐year‐old male with Weaver syndrome. A comprehensive dental examination was performed under general anesthesia. The clinical findings were: severe generalized heavy plaque with subgingival calculus, gingival edema, malocclusion and maxillary atresia, mild micrognathia of the mandible, enlarged tongue, and bifid uvula. Clinical and radiographic caries were not found. Out of over 40 possible cases of Weaver syndrome previously reported in the literature, only two were related to the oral cavity. Bifida uvula was not mentioned until now as clinical findings associated with the syndrome. Autism, macroglossia, and cleft palate were seldom mentioned. The oral manifestations in Weaver syndrome are not yet well known. Future studies will be required to improve the subject matter.     

Oral manifestations of celiac disease. A case report and review of the literature

Celiac disease is a chronic intestinal disease caused by intolerance to gluten associated with poor digestion and absorption of the majority of nutrients and vitamins, which may affect both developing dentition and oral mucosa. The aim of this study is to make a brief review of the literature about celiac disease and to report on a clinical case, showing the impact it may have on the general and oral health. A 39-year-old woman reported the presence of diarrhea, nauseas, flatulence, colic, difficulty with falling asleep, lack of appetite and loose of 18 Kg in the last two years. She also noted the appearance of symptomatic lesions in the mouth. These lesions had a mean duration of a month and occurred in any region of the oral mucosa, particularly on the tongue. Multiples ulcerations were found in the sublingual caruncula region, at the vestibular fornix and at the lingual apex. Topical treatment was instituted for the oral lesions with immediately relief of the symptoms. The diagnosis of celiac disease was established by means of medical clinical exam, biopsy of the small intestine, and by the presence of specific antibodies in the blood. The patient has been instructed to follow a gluten-free diet. Multiprofessional action with the involvement of a gastroenterologist and other health professionals, such as dentists, is important for diagnosing the disease and guiding the patient with celiac disease to achieve a good quality of life.     

Oral myiasis: case report and review of literature

Introduction

The term myiasis is applied to the injurious action that larvae of certain Diptera cause in vertebrate animals by growing in living or dead tissue. Because of its great destructive potential, appropriate and preventive treatment is necessary. Oral myiasis is a rare pathology in humans and is associated with poor oral hygiene, alcoholism, senility, suppurating lesion, severe halitosis, and other conditions.

Method

We have presented a case of oral myiasis in a mentally challenged patient.

Results

Reviewing the literature revealed that most of the cases involved the anterior part of the oral cavity of male patients living in developing or underdeveloped countries and also that predisposing factors invariably accompanied infestation.     

Oral manifestations in Ellis-van Creveld syndrome: report of five cases

Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. Its incidence in the general population is low. The oral manifestations of Ellis-van Creveld are found in soft tissues and teeth, but the dental literature on the subject is scarce. In the last 20 years, 5 cases of Ellis-van Creveld syndrome have been followed at the Pediatric Dentistry Service of the Hospital Sant Joan de Déu, Barcelona. The present study describes the constant and variable oral findings in these patients, which play an important role in the diagnosis criteria for the syndrome. The presence of a great variety of oral manifestations such as fusion of the upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth, and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients.     

Oral myiasis: a case report and literature review

Myiasis is the infestation of tissues and organs of animals and humans by certain Dipteran fly larvae. This phenomenon is well documented in the skin, especially among animals and people in tropical and subtropical areas. Oral myiasis is a rare condition and can be caused by several species of Dipteran fly larvae and may be secondary to serious medical conditions. Upon removal of the larvae, the tissues seem to recover with no subsequent complications and with no need for further treatment. Here we describe a case of oral myiasis within the gingiva of a healthy young man caused by the larvae of Wohlfahrtia magnifica (Family Sarcophagidae), in which infection may have been due to ingestion of infested flesh. Reviewing the literature revealed that most cases of oral myiasis tend to be multiple and to occur in anterior segments of the jaws rather than in posterior segments as in the case we describe here.     

Oral manifestations of juvenile hyaline fibromatosis: a case report

Hyaline fibromatosis is a rare autosomal recessive disease of connective tissue, characterised by an accumulation of hyaline in the skin as well as various organs. The clinical features include: multiple cutaneous nodules, joint contractures, osteolytic lesions and gingival hypertrophy. This paper reports the case of an 11-year-old boy, who was referred to our dental clinic complaining of pain in his mouth. On examination, the patient had gross maxillary and mandibular gingival hyperplasia, which caused severe feeding difficulties. He also had severe dental decay, mal-positioned teeth and limited mouth opening. Treatment was done under general anesthesia to remove excess gingival tissue and extract the severely decayed teeth. Histological examination confirmed the diagnosis of juvenile hyaline fibromatosis. It was concluded that patients with this condition have special dental needs. Early diagnosis of the affected children is important in order to start early preventive dental therapy.