Author
Ronald J. Jorgenson
Other affiliations: Baylor College of Medicine
Bio: Ronald J. Jorgenson is an academic researcher from University of Texas Health Science Center at San Antonio. The author has contributed to research in topics: Neurofibromatosis & Tongue. The author has an hindex of 1, co-authored 1 publications receiving 119 citations. Previous affiliations of Ronald J. Jorgenson include Baylor College of Medicine.
Topics: Neurofibromatosis, Tongue
Papers
More filters
TL;DR: The prevalence of oral and radiographic findings in this sample was 72%, which is much higher than previously reported and the five most common findings are oral neurofibromas, enlarged fungiform papillae, intrabony lesions, wide inferior alveolar canals, and enlarged mandibular foramina.
123 citations
Cited by
More filters
23 Feb 2017
TL;DR: Although considerable progress has been made in understanding this condition, numerous challenges remain; a collaborative and interdisciplinary approach is required to manage individuals with neurofibromatosis type1 and to develop effective treatments.
Abstract: Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (cafe-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life. With the identification of NF1 and the generation of accurate preclinical mouse strains that model some of these clinical features, therapies that target the underlying molecular and cellular pathophysiology for neurofibromatosis type 1 are becoming available. Although no single treatment exists, current clinical management strategies include early detection of disease phenotypes (risk assessment) and biologically targeted therapies. Similarly, new medical and behavioural interventions are emerging to improve the quality of life of patients. Although considerable progress has been made in understanding this condition, numerous challenges remain; a collaborative and interdisciplinary approach is required to manage individuals with neurofibromatosis type1 and to develop effective treatments.
639 citations
TL;DR: The need for a more in-depth understanding of the underlying pathophysiology of DTE is addressed and gives the clinician a methodology to approach its diagnosis and treatment.
310 citations
01 Jan 2010
TL;DR: Although permanent teeth eruption is under significant genetic control, various general factors such as gender, socioeconomic status, craniofacial morphology, body composition can influence this process.
Abstract: Variation in the normal eruption of teeth is a common finding, but significant deviation from established norms should alert the clinician to take some diagnostic procedures in order to evaluate patient health and development. Disturbance in tooth eruption time could be a symptom of general condition or indication of altered physiology and craniofacial development. The aim of this review is to analyze general factors that could influence permanent teeth eruption. The articles from 1965 to 2009 in English related to topic were identified. 84 articles were selected for data collection. Although permanent teeth eruption is under significant genetic control, various general factors such as gender, socioeconomic status, craniofacial morphology, body composition can influence this process. Most significant disturbance in teeth emergence is caused by systemic diseases and syndromes.
97 citations
TL;DR: The incidence of jaw and skull involvement in neurofibromatosis may be greater than previously reported in the literature.
93 citations
TL;DR: A case of a NF1 patient with a gingival neurofibroma in the attached gingiva of the lingual aspect of the lower central incisors is presented, and Histopathological and immunohistochemical analysis confirmed the clinical hypothesis of neurof fibroma.
Abstract: The term neurofibromatosis (NF) is used for a group of genetic disorders that primarily affect the cell growth of neural tissues. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is the most common type of NF and accounts for about 90% of all cases. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3,000 births. The expressivity of NF1 is extremely variable, with manifestations ranging from mild lesions to several complications and functional impairment. Oral manifestations can be found in almost 72% of NF1 patients. A case of a NF1 patient with a gingival neurofibroma in the attached gingiva of the lingual aspect of the lower central incisors is presented. The lesion was nodular, with sessile base, non-ulcerated, non-painful, with normal colour and measured 1 cm in diameter. An excisional biopsy of the oral lesion was performed. Histopathological and immunohistochemical analysis confirmed the clinical hypothesis of neurofibroma. Because NF1 is one of the most common genetic diseases and oral manifestations are very common, dentists should be aware of the characteristics of this disease.
64 citations