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The Journal of Clinical Endocrinology... May 2022Pain is a major symptom in adults with fibrous dysplasia/McCune-Albright syndrome (FD/MAS) and response to current treatments, including bisphosphonates and standard...
CONTEXT
Pain is a major symptom in adults with fibrous dysplasia/McCune-Albright syndrome (FD/MAS) and response to current treatments, including bisphosphonates and standard analgesics (nonsteroidal anti-inflammatory drugs and opiates) is unpredictable. No studies have explored whether the type of pain is variable in this patient group.
OBJECTIVE
To determine the frequency of neuropathic-like pain in patients with FD/MAS.
DESIGN
Retrospective, dual registry study.
SETTING
Community.
PATIENTS
FD/MAS online registries: the US-based Familial Dysautonomia Foundation (FDF) and the UK-based Rare and Undiagnosed Diseases (RUDY) study.
INTERVENTION
Subjects completed questionnaires to evaluate the presence of features of neuropathic-like pain (painDETECT) and the impact on sleep quality (Pittsburgh Sleep Quality Index) and mental health (Hospital Anxiety and Depression Scale). Descriptive statistics were used to characterize the prevalence and associated burden of neuropathic-like pain.
MAIN OUTCOME MEASURES
Incidence of neuropathic, nociceptive, and unclear pain.
RESULTS
Of 249 participants, one third experienced neuropathic-like pain. This group had statistically significantly (P < 0.001) worse mental well-being and sleep in comparison to those with predominately nociceptive pain.
CONCLUSIONS
Neuropathic-like pain is common in patients with FD/MAS and associated with worse quality of life. Evaluation of pain in patients with FD/MAS should include assessment of neuropathic-like pain to guide personalized approaches to treatment and inform future research.
Topics: Adult; Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; Humans; Pain; Peripheral Nervous System Diseases; Quality of Life; Retrospective Studies
PubMed: 35262711
DOI: 10.1210/clinem/dgac120 -
Current Osteoporosis Reports Oct 2016Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic... (Review)
Review
Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic activating mutations in GNAS, in the cAMP-regulating transcript α-subunit, Gsα. Constitutive Gs signaling results in activation of adenylyl cyclase and dysregulated cAMP production. In the skeleton, this leads to the development of FD lesions with abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. FD may occur in isolation or in combination with extraskeletal manifestations, including hyperfunctioning endocrinopathies and café-au-lait macules, termed McCune-Albright syndrome (MAS). This review summarizes current clinical and translational perspectives in FD/MAS, with an emphasis on FD pathogenesis, natural history, pre-clinical and clinical investigation, and future directions.
Topics: Animals; Bone Density Conservation Agents; Bone and Bones; Chromogranins; Disease Models, Animal; Fibroblast Growth Factor-23; Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; GTP-Binding Protein alpha Subunits, Gs; Humans; Pain Management; Translational Research, Biomedical
PubMed: 27492469
DOI: 10.1007/s11914-016-0317-0 -
Oral Surgery, Oral Medicine, Oral... Sep 2013McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (FD), endocrine disorders, and café-au-lait...
McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (FD), endocrine disorders, and café-au-lait skin pigmentation. Ninety percent of MAS patients have FD lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, bone pain, and compromised oral health. Maxillomandibular FD is also associated with dental developmental disorders, malocclusion, and high caries index. There are limited data on the outcomes of dental treatments in maxillomandibular FD/MAS patients, because clinicians and researchers have limited access to patients, and there are concerns that dental surgery may activate quiescent jaw FD lesions to grow aggressively. This report highlights current perspectives on dental management issues associated with maxillomandibular FD within the context of MAS.
Topics: Dental Care; Disease Management; Fibrous Dysplasia, Polyostotic; Humans; Radiography
PubMed: 23953425
DOI: 10.1016/j.oooo.2013.05.023 -
Case Reports in Dentistry 2020Cleidocranial dysplasia (CCD) is a rare inherited skeletal syndrome. There is no consensus regarding the dental treatment strategy. . To report a rare case of...
Cleidocranial dysplasia (CCD) is a rare inherited skeletal syndrome. There is no consensus regarding the dental treatment strategy. . To report a rare case of cleidocranial dysplasia and to summarize the current clinical and dental features and prosthetic treatment of similar CCD patients reported in the literature. . A 17-year-old girl was diagnosed with CCD. She had a short stature with the ability to bring the shoulders under the chest. All remaining teeth were deciduous except the four first molars were permanent. The maxilla was hypoplastic with a relative prognathism of the mandible. The cone-beam computed tomography examination showed a distorted and incomplete root formation of the permanent teeth. She was treated with both, complete and partial, removable overdentures. PubMed was used for the literature research using the following keys words "Cleidocranial Dysplasia"[Mesh], "Prosthodontics"[Mesh], "Dental Care"[Mesh], "cleidocranial dysostosis," and "dental treatment." The retention of deciduous teeth was described in the majority of cases. All the patients had supernumerary teeth. The most used treatments were dental prosthetics and orthodontics. The fixed prosthetic implant was the most used type of prosthetic treatment. Among the 15 cases who specified the type of prosthetic treatment, seven patients received removable dentures. Prosthetics was indicated especially for aged patients. . Removable prostheses are a good solution that rapidly restores esthetics and functions. The use of implants for these patients needs to be validated by a long-term follow-up.
PubMed: 33414969
DOI: 10.1155/2020/8910798 -
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi... May 2022Cleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1∶1...
Cleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1∶1 000 000. In this study, a case of cranio-clavicular dysplasia was reported, and related literature was reviewed. RUNX2 6p21.1 NM_001024630.3 Exon4 c.534dupAp.(Val179fs) was identified to be a new frameshift mutation by gene analysis.
PubMed: 38597020
DOI: 10.7518/hxkq.2022.03.018 -
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 -
Folia Morphologica 2019This paper describes a rare case of genetically determined dentin dysplasia type Iin 26-year-old male patient. The paper highlights anatomical and radiologicalaspects of...
This paper describes a rare case of genetically determined dentin dysplasia type Iin 26-year-old male patient. The paper highlights anatomical and radiologicalaspects of dental abnormalities and emphasizes the significance of the educationof both general practitioners and paediatricians as regards referring patients withdiagnosed dentin dysplasia for a multi-specialty therapy.
Topics: Adult; Cysts; Dental Pulp; Dentin Dysplasia; Humans; Male; Radiography, Panoramic; Tooth Root
PubMed: 30687910
DOI: 10.5603/FM.a2019.0012 -
Medicina Oral, Patologia Oral Y Cirugia... Sep 2011To determine whether a series of diseases of the oral mucosa - Sjögren syndrome, ectodermal dysplasia, epidermolysis bullosa and lichen planus - reduce the survival... (Review)
Review
OBJECTIVE
To determine whether a series of diseases of the oral mucosa - Sjögren syndrome, ectodermal dysplasia, epidermolysis bullosa and lichen planus - reduce the survival rate of dental implants.
MATERIAL AND METHOD
A Medline search was carried out using the key words: " Sjögren syndrome ", "ectodermal dysplasia ", "epidermolysis bullosa ", "lichen planus " and "dental implants ", including those publications involving clinical series comprising more than one patient with the mentioned disorders and treated with dental implants, in the last 10 years.
RESULTS
The study included three articles involving patients with Sjögren syndrome subjected to dental implant treatment, representing a total of 12 patients and 86 implants, with a mean pondered success rate of 86.33%. As regards ectodermal dysplasia, we included 14 articles, of which 11 corresponded to clinical series, two were reviews and one constituted a survey of dental professionals. The percentage success rate of the implants varied between 35.7-100%. In relation to epidermolysis bullosa, we included 6 articles corresponding to clinical series, with a total of 16 patients and 92 implants, and a success rate between 75-100%. In the case of oral lichen planus we found only two articles corresponding to clinical case series, with a total of 5 patients and 14 implants, and an implant survival rate of 100%.
CONCLUSIONS
Based on our review of the literature, dental implant rehabilitation in patients of this kind is seen to be a valid treatment option, with a high percentage success rate. Long-term patient follow-up is essential in order to periodically monitor the condition of the disease and of the implants.
Topics: Dental Implants; Humans; Mouth Diseases; Mouth Mucosa; Treatment Outcome
PubMed: 21196861
DOI: 10.4317/medoral.17056 -
Medicina Oral, Patologia Oral Y Cirugia... Jul 2022Actinic cheilitis is a potentially malignant lesion most commonly found in the lower lip of individuals with chronic exposure to ultraviolet radiation. The aim of this...
BACKGROUND
Actinic cheilitis is a potentially malignant lesion most commonly found in the lower lip of individuals with chronic exposure to ultraviolet radiation. The aim of this study was to develop and to test a clinical index that can be used to assess the severity of actinic cheilitis.
MATERIAL AND METHODS
The clinical index of actinic cheilitis was applied to 36 patients. An incisional biopsy was obtained to grade oral epithelial dysplasias following the World Health Organization (WHO) and binary systems, and to evaluate their association with clinical characteristics by Fisher's exact test (P<0.05). The accuracy of the index was evaluated based on sensitivity, specificity, positive and negative predictive values, and receiver operating curve.
RESULTS
The blurring between the border of the lip and the skin was significantly associated with cases without dysplasia/mild epithelial dysplasia (P=0.041) and with low risk of malignancy (P=0.005). Ulcers and crusts were significantly associated with moderate/severe epithelial dysplasia (P=0.002 and P=0.012, respectively) and high risk of malignancy (P=0.005 and P=0.045, respectively). Erosion showed a significant association only with high-risk cases of malignancy (P=0.024). The cut-off values of the diagnostic test showing the best performance were 10 for the WHO grading system and 11 for the binary system.
CONCLUSIONS
The index cut-offs with the highest accuracy were considered indicators for a biopsy. Erosion, ulceration and crusts were associated with more severe oral epithelial dysplasias.
Topics: Cheilitis; Humans; Hyperplasia; Lip; Lip Neoplasms; Ultraviolet Rays
PubMed: 35660729
DOI: 10.4317/medoral.25243 -
BMC Oral Health Oct 2021Children missing 6 or more permanent teeth often present with complex dental care needs and significant impacts on their oral health related quality of life (OHRQoL)....
BACKGROUND
Children missing 6 or more permanent teeth often present with complex dental care needs and significant impacts on their oral health related quality of life (OHRQoL). The most important facet in the overall care for these children is the child's own experience, but parents primarily make the decisions regarding their child's dental management. Understanding the parental perspective could have a positive impact on planning and provision of care for these patient groups in the future. The study compared the parental perspectives on OHRQoL impact and dental experience for children with ectodermal dysplasia (ED), severe isolated hypodontia (IH), and matched controls following assessment of their dental features.
DESIGN
A cross-sectional study of 172 children (mean age: 12.4 years old) was conducted; 86 with severe hypodontia (≥ 6 missing teeth; ED: 29; IH: 57) and 86 age and gender matched controls. The Parental-Caregiver Perceptions Questionnaire (P-CPQ), Family Impact Scale (FIS) and a supplemental questionnaire were used to gather information on parental perceptions of OHRQoL and dental experiences, respectively. Clinical examinations were used to assess and compare the dental features between children with ED, IH and their respective controls.
RESULTS
Higher scores (p < 0.05) were found in P-CPQ and FIS scores between the children with ED, IH and their respective controls. P-CPQ scores for males with ED had a moderate correlation with functional limitations (R = 0.576; p = 0.001*), oral symptoms (R = 0.444; p = 0.016*) and overall QoL (R = 0.499; p = 0.006*). The ED group reported earlier awareness of issues, the youngest attendance (3.24 years) and highest perceived number of appointments ("20 or more"; 58.6%). The mean number of missing teeth in the ED group was almost twice that of the IH group (ED: 20.17; IH: 10.68) and the median number of missing teeth (Radiographically: ED = 21; IH = 9; Clinically: ED = 11; IH = 6), was significantly greater in the ED group when compared to the IH group (p < 0.001*).
CONCLUSION
Parents of children with ED and IH perceive a greater impact on QoL, for both the child and their family. Children with ED need earlier intervention and more extensive treatment than children with IH and their controls.
Topics: Anodontia; Child; Cross-Sectional Studies; Dental Caries; Ectodermal Dysplasia; Humans; Male; Oral Health; Parents; Perception; Quality of Life; Surveys and Questionnaires
PubMed: 34627220
DOI: 10.1186/s12903-021-01878-5