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Anaesthesiology Intensive Therapy 2021Respiratory complications are one of the main problems in paediatric anaesthesia. Cherubism is a rare fami-lial disease causing enlargement of the mandible that may be...
Respiratory complications are one of the main problems in paediatric anaesthesia. Cherubism is a rare fami-lial disease causing enlargement of the mandible that may be associated with difficult intubation [1, 2]. A 5-year-old, 20 kg, ASA 1, healthy girl was evaluated for anaesthesia requested for the removal of mandibular lesions (Figure 1). She had a positive family history of cherubism; her father and cousins were affected. Radiogra-phically, the lesions demonstrated multilocular, expansile radiolucencies with mandibular enlargement. The preoperative examination was unremarkable: normal neck flexion, no trismus, and a Mallampati score of 1. A venous catheter was inserted peripherally under N2O inhalation and transdermic lidocaine and prilocaine patch. The general anaesthesia combined sevoflurane and IV sufentanil. Nasotracheal intubation under direct laryngoscopy was uneventful. After the surgery, which lasted 120 minutes, she was admitted to the post anaesthesia care unit for 1 night and discharged the next day without any sequelae.
Topics: Anesthesia, General; Anesthesiology; Cherubism; Child; Child, Preschool; Female; Humans; Intubation, Intratracheal; Laryngoscopy
PubMed: 34006057
DOI: 10.5114/ait.2021.105980 -
International Journal of Environmental... Mar 2022Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a... (Review)
Review
BACKGROUND
Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a manifestation of systemic disease. This review aims to present systemic disorders that can lead to premature loss of deciduous teeth in children and to provide a comprehensive resource for clinical practice for both physicians and dentists.
METHODS
This study is a narrative review of original studies and case reports published in English and Polish between 1957 and 2021 that was conducted by searching electronic scientific resources: PubMed, Google Scholar, Web of Science, and Science Direct. The schema of the qualification process is represented by a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). In total, 196 articles were identified; after provisional assessment of the titles and abstracts by two reviewers, 46 were found to be relevant to the topic, including 1 review, 16 original papers, and 27 case reports regarding systemic disease resulting in premature tooth loss.
RESULTS
In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon-Lefèvre syndrome, mucocutaneous dyskeratosis, Coffin-Lowry syndrome, congenital adrenal hyperplasia, Langerhans cell histiocytosis, cherubism, hypophosphatasia, acatalasia, Chediak-Higashi syndrome, cyclic neutropenia, erythromelalgia, Down syndrome, Hajdu-Cheney syndrome, short bowel syndrome, leukocyte adhesion deficiency type 1 (LAD-1), and Wiedemann-Steiner syndrome (WSS).
Topics: Child; Child, Preschool; Humans; Infant, Newborn; Leukocyte-Adhesion Deficiency Syndrome; Neutropenia; Papillon-Lefevre Disease; Tooth Loss; Tooth, Deciduous
PubMed: 35329073
DOI: 10.3390/ijerph19063386 -
Indian Pediatrics Jun 2020
Topics: Cherubism; Humans
PubMed: 32562411
DOI: No ID Found -
Frontiers in Immunology 2023Ubiquitin-mediated proteasomal degradation is a post-transcriptional protein modification that is comprised of various components including the 76-amino acid protein... (Review)
Review
Ubiquitin-mediated proteasomal degradation is a post-transcriptional protein modification that is comprised of various components including the 76-amino acid protein ubiquitin (Ub), Ub-activating enzyme (E1), Ub-conjugating enzyme (E2), ubiquitin ligase (E3), deubiquitinating enzyme (DUB) and proteasome. We and others have recently provided genetic evidence showing that E3-ubiquitin ligases are associated with bone metabolism, the immune system and inflammation through ubiquitylation and subsequent degradation of their substrates. Dysregulation of the E3-ubiquitin ligase RNF146-mediated degradation of the adaptor protein 3BP2 (SH3 domain-binding protein 2) causes cherubism, an autosomal dominant disorder associated with severe inflammatory craniofacial dysmorphia syndrome in children. In this review, on the basis of our discoveries in cherubism, we summarize new insights into the roles of E3-ubiquitin ligases in the development of human disorders caused by an abnormal osteoimmune system by highlighting recent genetic evidence obtained in both human and animal model studies.
Topics: Animals; Child; Humans; Ubiquitin-Protein Ligases; Cherubism; Ubiquitination; Ubiquitin; Ubiquitin-Activating Enzymes
PubMed: 36911671
DOI: 10.3389/fimmu.2023.1120710 -
Rheumatic Diseases Clinics of North... Nov 2013Autoinflammatory bone disease is a new branch of autoinflammatory diseases caused by seemingly unprovoked activation of the innate immune system leading to an osseous... (Review)
Review
Autoinflammatory bone disease is a new branch of autoinflammatory diseases caused by seemingly unprovoked activation of the innate immune system leading to an osseous inflammatory process. The inflammatory bone lesions in these disorders are characterized by chronic inflammation that is typically culture negative with no demonstrable organism on histopathology. The most common autoinflammatory bone diseases in childhood include chronic nonbacterial osteomyelitis (CNO), synovitis, acne, pustulosis, hyperostosis, osteitis syndrome, Majeed syndrome, deficiency of interleukin-1 receptor antagonist, and cherubism. In this article, the authors focus on CNO and summarize the distinct genetic autoinflammatory bone syndromes.
Topics: Acne Vulgaris; Acquired Hyperostosis Syndrome; Anemia, Dyserythropoietic, Congenital; Bone Diseases; Cherubism; Chronic Disease; Hereditary Autoinflammatory Diseases; Humans; Hyperostosis; Immunologic Deficiency Syndromes; Inflammation; Interleukin 1 Receptor Antagonist Protein; Osteitis; Osteomyelitis; Syndrome; Synovitis
PubMed: 24182852
DOI: 10.1016/j.rdc.2013.05.002 -
Head and Neck Pathology Jun 2014Cherubism is one of the very few genetically determined disorders that affect only jaw bones. A typical form of cherubism in an 11 years old girl with features of...
Cherubism is one of the very few genetically determined disorders that affect only jaw bones. A typical form of cherubism in an 11 years old girl with features of bilateral swelling of the cheeks and soap bubble radiographic appearance on the maxilla and the mandible was presented. Multiple members of the first and second degree relatives were also affected. The clinical presentation of the case, differential diagnosis and treatment modalities were discussed.
Topics: Cherubism; Child; Female; Humans; Pedigree
PubMed: 24037598
DOI: 10.1007/s12105-013-0489-1 -
Tidsskrift For Den Norske Laegeforening... Mar 2020
Topics: Cherubism; Humans
PubMed: 32192251
DOI: 10.4045/tidsskr.19.0820 -
Orphanet Journal of Rare Diseases May 2012Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due... (Review)
Review
Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions proliferate and increase in size until puberty. The lesions subsequently begin to regress, fill with bone and remodel until age 30, when they are frequently not detectable.Fibro-osseous lesions, including those in cherubism have been classified as quiescent, non-aggressive and aggressive on the basis of clinical behavior and radiographic findings. Quiescent cherubic lesions are usually seen in older patients and do not demonstrate progressive growth. Non-aggressive lesions are most frequently present in teenagers. Lesions in the aggressive form of cherubism occur in young children and are large, rapidly growing and may cause tooth displacement, root resorption, thinning and perforation of cortical bone.Because cherubism is usually self-limiting, operative treatment may not be necessary. Longitudinal observation and follow-up is the initial management in most cases. Surgical intervention with curettage, contouring or resection may be indicated for functional or aesthetic reasons. Surgical procedures are usually performed when the disease becomes quiescent. Aggressive lesions that cause severe functional problems such as airway obstruction justify early surgical intervention.
Topics: Adaptor Proteins, Signal Transducing; Biomarkers; Cherubism; Diagnosis, Differential; Genetic Counseling; Genetic Testing; Humans; Jaw; Lymph Nodes; Mutation; Noonan Syndrome; Severity of Illness Index
PubMed: 22640403
DOI: 10.1186/1750-1172-7-S1-S6