Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 70
Filter
Add more filters

Country/Region as subject
Publication year range
1.
BMC Anesthesiol ; 22(1): 344, 2022 Nov 11.
Article in English | MEDLINE | ID: mdl-36368914

ABSTRACT

BACKGROUND: Dexamethasone is widely used in the prevention of postoperative complications in oral surgery and strengthening the analgesic effect after anesthesia, but the efficacy is controversial, and the relationship between postoperative complications and pain is still unclear. The purpose of this study was to evaluate the analgesic effect of dexamethasone in the treatment of jaw cyst and to explore the relationship between postoperative complications and pain. METHODS: We conducted a prospective, randomized, double-blind clinical trial. 120 patients were divided into two groups, dexamethasone group ( group D) and control group (Group C). All patients were given 0.02 mg·kg-1 of hydromorphone to relieve pain in advance at 10 min before the beginning of operation. Meanwhile, dexamethasone was injected 0.2 mg·kg-1 intravenously in group D and normal saline was injected in group C. The primary endpoint was pain intensity at 2 h, 6 h, 12 h, 24 h and 48 h after surgery. The secondary endpoints were the incidence and extent of complications after surgery, including facial swelling and trismus. RESULTS: Compared with group C, the visual analogue scale (VAS) scores and occurrence of painful event postoperatively in group D were significantly lower both at rest (P < 0.0001 and P = 0.0014) and during mobilization (P < 0.0001 both). The degree of facial swelling and trismus in group D were significantly lower than that in group C at 24 h (P < 0.0001 and P = 0.00022) and 48 h (P < 0.0001 and P = 0.00015) after surgery, but there was no difference at 6 h and 12 h (P = 0.137 and P = 0.083) after surgery. The C-reactive protein (CRP) level at 24 h after operation in group D was lower than group C (P = 0.012), but there was no significant difference in blood glucose concentration between the two groups (P = 0.608). CONCLUSION: Dexamethasone can reduce the degree of facial swelling and trismus after jaw cyst surgery by inhibiting the production of inflammation, which alleviated the postoperative pain of patients significantly. In addition, it did not increase the risk of hyperglycemia. TRIAL REGISTRATION: This study was registered with the Chinese Clinical Trial Registry on May 07, 2020 (URL: http://www.chictr.org.cn/showproj.aspx?proj=53344 . Registry number: ChiCTR2000032693). Registered on 07/05/2020.


Subject(s)
Analgesia , Jaw Cysts , Humans , Trismus/prevention & control , Trismus/drug therapy , Trismus/etiology , Dexamethasone/therapeutic use , Prospective Studies , Double-Blind Method , Pain, Postoperative/drug therapy , Pain, Postoperative/prevention & control , Pain, Postoperative/etiology , Postoperative Complications/prevention & control , Jaw Cysts/complications , Analgesics/therapeutic use
3.
J Craniofac Surg ; 25(2): 666-7, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24469364

ABSTRACT

In this article, the case of a patient with osteocutaneous fistula at the left malar region secondary to impacted spike of a soccer cleat to the mandible is presented. Both the clinical and radiologic diagnoses failed because of an obscure anamnesis of the patient and the unavailability of viewing the spike in orthopantomogram and computed tomography. Surgical extirpation was performed to the 41-year-old man who was injured in a football match 3 months before the presentation and had a swooning history after an accidental booting. There were no early or late complications after the surgery at the end of 9 months. This study shows the importance of both obtaining a definite history of patients and sequential radiologic imaging to make a differential diagnosis between the foreign bodies and cystic or noncystic tumors and inflammatory lesions of the mandible.


Subject(s)
Cutaneous Fistula/diagnostic imaging , Foreign Bodies/diagnostic imaging , Mandibular Injuries/diagnostic imaging , Soccer/injuries , Wounds, Penetrating/diagnostic imaging , Adult , Diagnosis, Differential , Humans , Jaw Cysts/complications , Male , Tomography, X-Ray Computed
4.
Dent Traumatol ; 29(3): 185-96, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23294978

ABSTRACT

Pathological mandibular fractures are rare, accounting for fewer than 2% of all fractures of the mandible. They could be defined as fractures that occur in regions where bone has been weakened by an underlying pathological process. Pathological fractures usually may follow surgical interventions such as third molar removal or implant placement, result from regions of osteomyelitis, osteoradionecrosis, and bisphosphonate-related osteonecrosis of the jaw, occur because of idiopathic reasons or be facilitated by cystic lesions, benign, malignant, or metastatic tumors. Pathological mandibular fractures may be challenging to treat because of their different etiology and peculiar local and general conditions, often requiring a more rigid fixation. In patients with poor medical conditions, simpler and more limited options may be preferred.


Subject(s)
Mandibular Diseases/complications , Mandibular Fractures/etiology , Tooth Extraction/adverse effects , Dental Implantation, Endosseous/adverse effects , Humans , Jaw Cysts/complications , Mandibular Fractures/pathology , Mandibular Neoplasms/complications , Osteolysis, Essential/complications
5.
Am J Orthod Dentofacial Orthop ; 144(4): 616-8, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24075670

ABSTRACT

The aims of this article are to introduce mandibular condylar pseudocysts to orthodontists, present 2 relevant case reports, and discuss possible differential diagnoses. Condylar pseudocyst is a radiologic variant of pterygoid fovea, which is the site of insertion of the lateral pterygoid muscle to the head of the mandibular condyle. A pathognomonic picture of a solitary well-defined radiolucency with radiopaque borders, located on the anterior aspect of the condyle in an asymptomatic orthodontic patient, is characteristic.


Subject(s)
Jaw Cysts/pathology , Malocclusion/complications , Mandibular Condyle/pathology , Mandibular Diseases/pathology , Orthodontics , Adolescent , Asymptomatic Diseases , Child , Female , Humans , Jaw Cysts/complications , Male , Malocclusion/therapy , Mandibular Diseases/complications
6.
J Contemp Dent Pract ; 14(1): 133-6, 2013 Jan 01.
Article in English | MEDLINE | ID: mdl-23579910

ABSTRACT

AIM: The aim of this report is to introduce a rare case in which an infected keratocystic odontogenic tumor (KCOT) was initially diagnosed and treated as a dentoalveolar abscess. BACKGROUND: Keratocystic odontogenic tumor (KCOT) is a benign neoplasm that can be secondarily infected. However, cervical soft tissue abscess formation as a result of an infected odontogenic cyst or tumor is a rare condition few of which have only been described in the existing literature. Also, there has been a single report regarding the coincidence of a traumatic bone cyst and a keratocytic odontogenic tumor to date. CASE REPORT: The patient was a 29-year-old male, complaining of fever, pain and swelling in the left submandibular region. The panoramic radiography showed a well-defined and partially corticated radiolucency between the roots of the second and third left mandibular molars. In addition, a well-corticated radiolucent lesion was incidentally found on the right side of the mandible, which, following surgical exploration, was diagnosed as a traumatic bone cyst. CONCLUSION: In the present report, an infected KCOT manifested as a cervical abscess, coincided with a traumatic bone cyst. CLINICAL SIGNIFICANCE: From the clinical point of view, it is of paramount significance to prevent misdiagnosis of similar presentations as pulp and periapical lesions, which may lead to mistreatment and thus complications.


Subject(s)
Abscess/diagnosis , Jaw Cysts/complications , Mandibular Diseases/complications , Mandibular Neoplasms/diagnosis , Odontogenic Tumors/diagnosis , Adult , Diagnosis, Differential , Follow-Up Studies , Humans , Male , Mandibular Neoplasms/complications , Mandibular Neoplasms/diagnostic imaging , Molar/diagnostic imaging , Molar, Third/diagnostic imaging , Odontogenic Tumors/complications , Odontogenic Tumors/diagnostic imaging , Radiography, Panoramic
7.
J Craniofac Surg ; 23(6): e560-2, 2012 Nov.
Article in English | MEDLINE | ID: mdl-23172477

ABSTRACT

BACKGROUND: The aim of this article was to present our experience in the management of pathologic mandibular fractures. METHODS: We conducted a retrospective analysis of 14 patients with pathologic mandibular fractures associated with osteoradionecrosis, bisphosphonate-related osteonecrosis of the jaw, benign/malignant lesions, osteomyelitis, idiopathic, or iatrogenic etiology. Data collected included age, sex, etiology, site, treatment, and outcome. RESULTS: Five patients had iatrogenic fractures, 3 patients had osteomyelitis, 2 had benign cystic lesion, and the remaining 4 had primary squamous cell carcinoma, histiocytosis, multiple myeloma, and bisphosphonate-related osteonecrosis of the jaw, respectively. Eleven fractures of 14 were treated using a 2.4-mm mandibular plate. CONCLUSIONS: Pathologic mandibular fractures may be challenging to treat because of their different etiology and peculiar local and general conditions, often requiring a more rigid fixation. In patients with poor medical conditions, simpler and more limited options may be preferred.


Subject(s)
Mandibular Fractures/etiology , Mandibular Fractures/surgery , Adult , Aged , Female , Humans , Iatrogenic Disease , Jaw Cysts/complications , Male , Mandibular Neoplasms/complications , Middle Aged , Osteomyelitis/complications , Osteonecrosis/complications , Postoperative Complications , Retrospective Studies , Treatment Outcome
8.
Ned Tijdschr Tandheelkd ; 119(4): 199-204, 2012 Apr.
Article in Dutch | MEDLINE | ID: mdl-22567817

ABSTRACT

Because of the intimate relationship between the maxillary teeth and the maxillary sinus, it is no surprise that odontogenic infections, odontogenic cysts and tumours which have their origin in the mucosa and the bone of the maxilla may extend into the maxillary sinus and, occasionally, into the nasal cavity. Diseases of the maxillary sinus can also extend into the oral cavity and can cause symptoms that mimic those of odontogenic diseases. Important diseases of the maxillary sinus are maxillary sinusitis, oroantral communications, antroliths, cysts and neoplasms.


Subject(s)
Maxillary Sinus , Paranasal Sinus Diseases/complications , Paranasal Sinus Diseases/etiology , Tooth Diseases/complications , Tooth Diseases/etiology , Humans , Jaw Cysts/complications , Maxillary Diseases/complications , Maxillary Neoplasms/complications , Maxillary Sinusitis/complications , Oroantral Fistula/complications
9.
J Oral Maxillofac Surg ; 68(4): 762-7, 2010 Apr.
Article in English | MEDLINE | ID: mdl-20307762

ABSTRACT

PURPOSE: To investigate the incidence and the local factors of impacted permanent teeth, except for the third molar, in Chinese patients through an x-ray study. MATERIALS AND METHODS: A total of 548 impacted permanent teeth from panoramic radiographs were studied and recorded according to the patients' gender and age, tooth position, and classification of impaction. The local factors contributing to impacted permanent tooth were also investigated. RESULTS: The incidence of impacted permanent teeth in the Chinese was 6.15%. The impacted tooth showed a predilection for women and was more common in the maxilla. The impaction of the canine had the greatest occurrence, 28.10% of all impacted teeth. Vertical impaction was most common (49.09%). The chief local factor for impacted teeth was the lack of interdental space (49.64%). CONCLUSIONS: All permanent teeth can occur with impaction in Chinese patients. Dentists should perform a thorough evaluation before planning suitable treatment.


Subject(s)
Tooth, Impacted/diagnostic imaging , Tooth, Impacted/epidemiology , Adolescent , Age Distribution , Asian People , Child , China/epidemiology , Dentition, Permanent , Female , Humans , Incidence , Jaw Cysts/complications , Male , Malocclusion/complications , Oral Surgical Procedures/adverse effects , Prevalence , Radiography, Panoramic , Risk Factors , Sex Distribution , Sex Ratio , Tooth, Impacted/etiology , Tooth, Impacted/pathology , Young Adult
11.
Acta Otolaryngol ; 139(8): 701-706, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31107127

ABSTRACT

Background: Many techniques have been proposed to close an oroantral fistula (OAF), with most of them involving transoral repairs with oral soft tissue flaps. An additional Caldwell-Luc approach or endoscopic sinus surgery (ESS) is required to address coexisting maxillary sinusitis. Objectives: This study presents the endonasal closure of an OAF through modified endoscopic medial maxillectomy (MEMM) with a free nasal mucoperichondrial-osteal graft. Materials and methods: Sixteen OAF patients who underwent closure operations in our department from May 2013 to June 2018 were retrospectively reviewed. Results: The main cause of OAF was maxillary dental cysts (56.25%). The OAF size ranged from 2 × 2 to 10 × 15 mm. The first molar (62.5%) was the most frequently involved tooth. All closures were made via MEMM, using nasal mucoperichondrial-osteal grafts harvested from the septum or nasal base. All patients were followed up for at least six months. Successful closure after a single procedure was achieved in 93.75% of cases. No obvious complications or recurrences were observed. Conclusions: Endonasal repair of OAFs via MEMM with free nasal mucosal grafts is feasible and promising. The approach preserves the normal oral and nasal physiology after surgery. It could be used alone for the closure of small to medium-sized OAFs.


Subject(s)
Endoscopy/methods , Jaw Cysts/complications , Oroantral Fistula/surgery , Adult , Female , Humans , Jaw Cysts/pathology , Male , Maxilla/surgery , Maxillary Sinus/surgery , Maxillary Sinusitis/complications , Middle Aged , Nasal Mucosa/transplantation , Nasal Septum/transplantation , Oroantral Fistula/etiology , Retrospective Studies
12.
J Med Genet ; 43(4): e16, 2006 Apr.
Article in English | MEDLINE | ID: mdl-16582078

ABSTRACT

BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant multisystem disorder with variable expression. NBCCS patients have variable susceptibility to development of basal cell carcinoma (BCC). Previous studies have shown that polymorphisms of some metabolic genes encoding the cytochrome p450 (CYP) and glutathione-S-transferase (GST) enzymes influenced the numbers of BCCs in sporadic BCC cases. OBJECTIVE: To determine whether allelic variants of these genes contribute to the variation in numbers of BCCs observed in NBCCS families. METHODS: Genotyping and analysis was carried out in 152 members (69 affected and 83 unaffected) of 13 families with NBCCS for seven polymorphisms in five metabolic genes including CYP1A1, CYP2D6, GSTM1, GSTP1, and GSTT1. RESULTS: GSTP1 Val105 and GSTP1 Val114 alleles were significantly associated with fewer BCC numbers (odds ratio (OR)105 = 0.55 (95% confidence interval, 0.35 to 0.88); OR114 = 0.20 (0.05 to 0.88)). The Val(105) allele showed a dose dependent effect (OR(Ile/Val) = 0.58 (0.34 to 0.88); OR(Val/Val) = 0.34 (0.14 to 0.78)). In addition, fewer jaw cysts were observed in carriers of the three p450 polymorphisms (CYP1A1m1, CYP1A1m2, and CYP2D6*4) (OR(CYP1A1m1) = 0.27 (0.12 to 0.58); OR(CYP1A1m2) = 0.25 (0.08 to 0.78); OR(CYP2D6*4) = 0.33 (0.18 to 0.60)). CONCLUSIONS: Genetic variants might contribute to the variation in numbers of BCCs and jaw cysts observed in NBCCS families.


Subject(s)
Basal Cell Nevus Syndrome/genetics , Cytochrome P-450 CYP1A1/genetics , Cytochrome P-450 CYP2D6/genetics , Glutathione Transferase/genetics , Polymorphism, Genetic , Adult , Alleles , Basal Cell Nevus Syndrome/complications , Basal Cell Nevus Syndrome/diagnosis , Family Health , Female , Genetic Predisposition to Disease , Glutathione S-Transferase pi/genetics , Humans , Jaw Cysts/complications , Jaw Cysts/genetics
13.
N Y State Dent J ; 73(5): 52-4, 2007.
Article in English | MEDLINE | ID: mdl-17969481

ABSTRACT

In 1942, Stafne was the first to report radiographic findings of "static bone cavities" situated near the angle of the mandible. The typical radiographic appearance of Stafne's mandibular defect is a radiolucency below the inferior alveolar canal, between the mandibular premolars and the angle of the mandible. Stafne's mandibular defect ranges from 10 mm to 30 mm in diameter. The size has been shown to be remarkably constant in diagnosed lesions followed over time. In the majority of cases, the lesion is symptomless. Routine surgical exploration is not indicated. It is suggested that the lesion is a radiographic rather than a pathological entity; therefore, consideration was given to making use of these anatomical retentive areas in a prosthetic manner. In this article, a literature review of Stafne's mandibular defect is presented and attempts to improve the retention and stability of the lower complete dentures by using this anatomical entity are described.


Subject(s)
Denture Retention/methods , Denture, Complete, Lower , Jaw Cysts/pathology , Jaw, Edentulous/rehabilitation , Mandibular Diseases/pathology , Aged , Alveolar Bone Loss/complications , Dental Arch/pathology , Denture Design , Female , Humans , Jaw Cysts/complications , Jaw Cysts/diagnostic imaging , Jaw, Edentulous/diagnostic imaging , Jaw, Edentulous/pathology , Male , Mandibular Diseases/complications , Mandibular Diseases/diagnostic imaging , Models, Dental , Radiography, Panoramic
17.
Med Oral Patol Oral Cir Bucal ; 10(2): 173-9, 2005.
Article in English, Spanish | MEDLINE | ID: mdl-15735551

ABSTRACT

The typical Stafne's cavity, located on the posterior portion of the mandible, is a relatively uncommon entity. However, when the defect is located in the anterior region of the mandible, it is quite rare, having thus far been described in only 36 cases in the scientific literature. Most of these defects appear in the fifth and sixth decades of life, are localized to the area of the canines and premolars, and have a predilection for males. The inferior dental canal, one of the anatomical-radiographic landmarks that aid in the diagnosis of Stafne's cavity in the posterior region, is rarely present anterior the mental foramen. For this reason, because of its more variable radiographic appearance compared to the posterior defect, its tendency to be superimposed over the apices of the teeth, and the rarity of its localisation to the anterior mandible, it is much more difficult to establish a definitive diagnosis of a Stafne's cavity in this location. It is therefore more likely that a diagnostic error can occur, especially early on. We present a new case in a 68-year-old male in which the diagnosis was serendipitous, and we review in particular the aetiology and pathogenesis, clinical aspects, and differential diagnoses for this condition.


Subject(s)
Jaw Cysts/pathology , Mandibular Diseases/pathology , Aged , Cellulose, Oxidized/therapeutic use , Cuspid , Diagnosis, Differential , Hemostatics/therapeutic use , Humans , Incisor , Jaw Cysts/complications , Male , Mandibular Diseases/complications , Oral Hemorrhage/drug therapy , Oral Hemorrhage/etiology , Salivary Gland Diseases/complications , Salivary Gland Diseases/pathology , Sublingual Gland/pathology
18.
RFO UPF ; 25(1): 125-131, 20200430. ilus
Article in Portuguese | LILACS, BBO - dentistry (Brazil) | ID: biblio-1357746

ABSTRACT

Introdução: o cisto ósseo traumático (COT) é um pseudocisto que se apresenta assintomático e é descoberto frequentemente em exames de rotina. Outra lesão também presente nos maxilares é o odontoma, sendo dividido em dois subtipos, o composto e o complexo; os odontomas são geralmente descobertos como um achado acidental, visto que não apresentam sintomatologia. Objetivo: relatar um caso incomum de um COT, associado à odontoma composto (OC). Relato de caso: paciente do gênero masculino, 16 anos de idade, compareceu à clínica escola de odontologia da Universidade Federal de Campina Grande (UFCG), campus Patos, PB, referenciado pelo cirurgião-dentista após solicitar exame radiográfico para tratamento ortodôntico e observar lesão radiolúcida em região anterior da mandíbula. Durante a anamnese, o paciente não relatou nenhuma alteração sistêmica ou doença de base, mas relatou trauma de infância na região acometida. No exame clínico intraoral, não foi observado nenhum aumento de volume na região. Realizou-se palpação na região, não havendo relato de dor. Ao analisar a radiografia panorâmica, observou-se a presença de pequenas estruturas calcificadas com radiopacidade semelhante às estruturas dentárias, delimitada por uma linha radiolúcida, sugestiva de OC. Para melhor localização, delimitação, relação com estruturas anatômicas e planejamento cirúrgico da lesão, foi solicitado um exame de tomografia computadorizada de feixe cônico (TCFC). Considerações finais: com base nos achados clínicos e radiográficos, optou-se por abordagem cirúrgica da lesão cística e enucleação do OC, sob anestesia local. No pós-operatório de um ano, o paciente evoluiu satisfatoriamente sem queixas clínicas.(AU)


Introduction: traumatic bone cyst (TBC) is a pseudocyst that usually presents asymptomatically and is found frequently in routine exams. Another lesion also present in the jaws is odontoma. The odontoma is divided into two subtypes, the compound and the complex; odontomas are usually discovered as an accidental finding, since they do not present symptomatology. Objective: the present article aims to report an unusual case of a TBC associated with a composite odontoma. Case report: a 16-year-old male patient attended the Clinic School of Dentistry of the Universidade Federal de Campina Grande (UFCG), Patos-PB campus, referenced by the dentist after identify radiolucent lesion in the anterior region of the mandible on radiographic examination for orthodontic treatment. During the anamnesis, the patient did not report any systemic alteration or underlying disease, but reported trauma in the region affected in childhood. The intra oral clinical examination, was not observed any increase in volume in the region. Palpation was performed in the region, and there was no report of pain. When analyzing panoramic radiography the presence of small calcified structures with radiopacity similar to dental structures was observed, delimited by a radiolucent line, suggestive of compound odontoma. To better location, delimitation, compared with anatomy and surgical planning of the injury, it was requested an cone beam computed tomography (CBCT). Final considerations: based on the clinical and radiographic findings, we opted for a surgical approach to cystic lesion and enucleation of composite odontoma, under local anesthesia. In the one-year postoperative period, the patient progresses satisfactorily without clinical complaints.(AU)


Subject(s)
Humans , Male , Adolescent , Jaw Cysts/complications , Mandibular Neoplasms/complications , Odontoma/complications , Jaw Cysts/surgery , Jaw Cysts/diagnostic imaging , Mandibular Neoplasms/surgery , Mandibular Neoplasms/diagnostic imaging , Odontoma/surgery , Odontoma/diagnostic imaging , Treatment Outcome , Cone-Beam Computed Tomography
19.
Am J Med Genet ; 69(3): 309-14, 1997 Mar 31.
Article in English | MEDLINE | ID: mdl-9096762

ABSTRACT

We present an 8-year-old African-American boy with medulloblastoma and nevoid basal cell carcinoma syndrome (NBCCS) who exhibited the radiosensitive response of basal cell carcinoma (BCC) formation in the area irradiated for medulloblastoma. Such a response is well-documented in Caucasian NBCCS patients with medulloblastoma. The propositus was diagnosed with medulloblastoma at the age of 2 years and underwent surgery, chemotherapy, and craniospinal irradiation. At the age of 6 years, he was diagnosed with NBCCS following his presentation with a large odontogenic keratocyst of the mandible, pits of the palms and soles and numerous BCCs in the area of the back and neck that had been irradiated previously for medulloblastoma. Examination of other relatives showed that the propositus' mother also had NBCCS but was more mildly affected; in particular, she had no BCCs. This case illustrates complex gene-environment interaction, in that increased skin pigmentation in African-Americans is presumably protective against ultraviolet, but not ionizing, radiation. This case and other similar cases in the literature show the importance of considering NBCCS in the differential diagnosis of any patient who presents with a medulloblastoma, especially before the age of 5 years, and of examining other close relatives for signs of NBCCS to determine the patient's at-risk status. Finally, for individuals who are radiosensitive, protocols that utilize chemotherapy in lieu of radiotherapy should be considered.


Subject(s)
Basal Cell Nevus Syndrome/complications , Medulloblastoma/complications , Basal Cell Nevus Syndrome/genetics , Black People/genetics , Child , Foot/pathology , Hand/pathology , Humans , Jaw Cysts/complications , Male , Medulloblastoma/genetics
20.
Am J Med Genet ; 69(3): 299-308, 1997 Mar 31.
Article in English | MEDLINE | ID: mdl-9096761

ABSTRACT

Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to > 1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include "coarse face" in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. Important radiological signs included calcification of the falx cerebri in 65%, of the tentorium cerebelli in 20%, bridged sella in 68%, bifid ribs in 26%, hemivertebrae in 15%, fusion of the vertebral bodies in 10%, and flame shaped lucencies of the phalanges, metacarpal, and carpal bones of the hands in 30%. Several traits previously considered components of the syndrome (including short fourth metacarpal, scoliosis, cervical ribs and spina bifida occulta) were not found to be significantly increased in the affected individuals. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management.


Subject(s)
Basal Cell Nevus Syndrome/diagnosis , Adolescent , Adult , Aged , Aged, 80 and over , Basal Cell Nevus Syndrome/epidemiology , Basal Cell Nevus Syndrome/pathology , Basal Cell Nevus Syndrome/radiotherapy , Child , Child, Preschool , Chromosomes, Human, Pair 9 , Cross-Sectional Studies , Female , Humans , Infant , Jaw Cysts/complications , Male , Medulloblastoma/complications , Medulloblastoma/radiotherapy , Middle Aged , Urogenital Abnormalities
SELECTION OF CITATIONS
SEARCH DETAIL