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Oral Diseases Sep 2017Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl... (Review)
Review
Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease.
Topics: Cafe-au-Lait Spots; Craniofacial Abnormalities; Diagnosis, Differential; Facial Asymmetry; Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; Humans; Malocclusion; Puberty, Precocious
PubMed: 27493082
DOI: 10.1111/odi.12563 -
European Journal of Paediatric Dentistry Jun 2022Despite the fact that ectodermal dysplasia (ED) is a rare disease, it is often seen in a tertiary clinic. ED affects ectodermal tissues such as skin, hair, teeth, nails,...
AIM
Despite the fact that ectodermal dysplasia (ED) is a rare disease, it is often seen in a tertiary clinic. ED affects ectodermal tissues such as skin, hair, teeth, nails, and sweat glands. Patients usually have sparse light hair, deformed nails, and dry skin. They suffer from dental abnormalities such as oligodontia (absence of 6 or more teeth) or complete anodontia; salivation can also be affected. The absence of teeth can be the overriding problem for both patients and their parents, and lead to substantial social ostracisation. This study aims to summarise the facts about the disease, especially dental treatment options based on data drawn from a representative Czech cohort.
MATERIALS
The present article summarises the facts about ectodermal dysplasia (ED) in a cohort of 13 patients, where the following were evaluated: clinical manifestations of ED, pathogenic variants detected in selected candidate genes and dental treatment options from child removable dentures to fixed crowns and implants insertion. Three cases are described in detail and demonstrate approaches for different age groups.
CONCLUSION
Early diagnosis and active cooperation between the geneticist and dentist will facilitate cooperation with parents and patients and assure secondary prevention. It is preferable that the geneticist understands dental treatment options and can discuss these with patients/parents.
Topics: Anodontia; Child; Dental Care; Ectodermal Dysplasia; Humans
PubMed: 35722846
DOI: 10.23804/ejpd.2022.23.02.12 -
Journal of the American Dental... Oct 1991Congenitally missing teeth and poorly developed or absent alveolar ridges are signs often associated with various types of ectodermal dysplasia. Endosseous dental... (Review)
Review
Congenitally missing teeth and poorly developed or absent alveolar ridges are signs often associated with various types of ectodermal dysplasia. Endosseous dental implants may be used to support fixed mandibular prostheses in patients with ectodermal dysplasia. Anatomical factors and age considerations require careful attention to treatment planning.
Topics: Adolescent; Age Factors; Alveolar Bone Loss; Chi-Square Distribution; Child; Dental Implantation, Endosseous; Dental Implants; Ectodermal Dysplasia; Esthetics, Dental; Humans; Patient Care Planning; Psychology; Root Resorption; Titanium; Tooth Abnormalities
PubMed: 1744347
DOI: 10.14219/jada.archive.1991.0307 -
Oral Surgery, Oral Medicine, Oral... Jan 2013Cleidocranial dysplasia (CCD) is an uncommon but well-known genetic skeletal condition. Several hundred affected persons are members of a large extended family in the... (Review)
Review
Cleidocranial dysplasia (CCD) is an uncommon but well-known genetic skeletal condition. Several hundred affected persons are members of a large extended family in the Cape Town Mixed Ancestry community of South Africa. The clinical manifestations are often innocuous, but hyperdontia and other developmental abnormalities of the teeth are a major feature and may require special dental management. Over the past 40 years, the authors have encountered more than 100 affected persons in Cape Town. Emphasis has been on dental management, but medical, genetic, and social problems have also been addressed. In this article, we have reviewed the manifestations of the disorder in the light of our own experience, and performed a literature search with emphasis on the various approaches to dental management and treatment options in CCD. Advances in the understanding of the biomolecular pathogenesis of CCD are outlined and the international and local history of the disorder is documented.
Topics: Cleidocranial Dysplasia; History, 18th Century; History, 19th Century; History, 20th Century; History, Ancient; Humans; South Africa
PubMed: 23102800
DOI: 10.1016/j.oooo.2012.07.435 -
Journal of Pharmacy & Bioallied Sciences Aug 2015Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition with generalized dysplasia of bone characterized by delayed closure of cranial sutures, hypoplastic... (Review)
Review
Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition with generalized dysplasia of bone characterized by delayed closure of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities. We report two cases presenting with classical features of CCD because of its rarity.
PubMed: 26538892
DOI: 10.4103/0975-7406.163490 -
European Review For Medical and... Feb 2023When treated in a dental chair, patients with deformities such as scoliosis often require special consideration.
BACKGROUND
When treated in a dental chair, patients with deformities such as scoliosis often require special consideration.
CASE REPORT
Here is a case of 9 years old Saudi child who was reported with dental problems. The objective of this study is to provide a guideline for dental management of diastrophic dysplasia.
CONCLUSIONS
Diastrophic dysplasia is a rare and nonlethal skeletal dysplasia, autosomal inheritance recessive, recognized by the infant's dysmorphic changes at birth. Diastrophic dysplasia is not a common hereditary disorder, however, the characteristic of this condition and guidelines for dental treatment should be known to a pediatric dentist, particularly at a major medical center.
Topics: Child; Infant; Infant, Newborn; Humans; Dwarfism; Scoliosis; Radiography; Dental Care
PubMed: 36808334
DOI: 10.26355/eurrev_202302_31181 -
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.American Journal of Medical Genetics.... Mar 2019An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal... (Review)
Review
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non-syndromic traits of the causative gene (e.g., non-syndromic hypodontia or missing teeth associated with pathogenic variants of EDA "ectodysplasin"). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT "wingless-type," TP63 "tumor protein p63") or the components of complex molecular structures (e.g., connexins, keratins, cadherins).
Topics: Alleles; Biomarkers; Databases, Genetic; Ectodermal Dysplasia; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Phenotype; Signal Transduction
PubMed: 30703280
DOI: 10.1002/ajmg.a.61045 -
Journal of Stomatology, Oral and... Dec 2019Dental rehabilitation raises specific challenges in patients with mandibular fibrous dysplasia. We report the 2-year post-operative outcomes on the normal and affected...
Dental rehabilitation raises specific challenges in patients with mandibular fibrous dysplasia. We report the 2-year post-operative outcomes on the normal and affected sides in a 64-year-old female with focal left mandibular fibrous dysplasia and bilateral posterior edentulism. On the left, bone shaving of the lesion to restore sufficient vertical height was followed by the insertion of two dental implants. Three dental implants were inserted into the normal bone on the right. Dental prostheses were added 6 months later. Two years after the first procedure, no complications had been recorded and the patient reported similar high satisfaction for both sides. This comparison of outcomes of dental implants inserted into dysplastic versus normal bone in the same patient suggests that dental implants may constitute a valid option for managing edentulism in selected patients with fibrous dysplasia, provided appropriate precautions are taken.
Topics: Aged; Alveolar Ridge Augmentation; Dental Implantation, Endosseous; Dental Implants; Dental Prosthesis, Implant-Supported; Dental Restoration Failure; Female; Humans
PubMed: 30763781
DOI: 10.1016/j.jormas.2019.02.005 -
Birth Defects Original Article Series 1988Only a brief review of the dental and oral abnormalities in a few ectodermal dysplasia syndromes has been presented. Obviously, careful evaluation of the dentitions of... (Review)
Review
Only a brief review of the dental and oral abnormalities in a few ectodermal dysplasia syndromes has been presented. Obviously, careful evaluation of the dentitions of patients suspected to have these disorders will add to our knowledge and assist in diagnosis of this heterogeneous group of genetic diseases.
Topics: Dental Enamel Hypoplasia; Ectodermal Dysplasia; Female; Humans; Male; Mouth Abnormalities; Syndrome; Tooth Abnormalities
PubMed: 3052618
DOI: No ID Found