Odontodysplasia is an uncommon dental developmental disorder associated with enamel, dentin, pulp abnormalities, and overall tooth morphology. The affected tooth is grossly abnormal in size and contour and is commonly associated with swelling of the affected area and failure of eruption. Histologically, the enamel and dentin are hypoplastic and hypomineralized. Odontodyplasia occurs most commonly in response to direct trauma to the developing tooth bud (enamel organ and dental follicle). Data on the prevalence and features of non-traumatic odontodysplasia are lacking. Medical records of dogs diagnosed with odontodysplasia were reviewed at the William R. Pritchard Veterinary Medical Teaching Hospital (VMTH), University of California, Davis, for 10 years (from 2013 to 2023). Dogs with a known history of facial trauma, persistent deciduous tooth or teeth over the region of odontodysplastic tooth or teeth, and endodontic disease of the persistent deciduous tooth or teeth were excluded from the study. Twenty-eight dogs were included in this retrospective study, representing an incidence of 1.4 per 100 dogs presenting over 10 years. Regional odontodysplasia (RO) was identified in twenty-two dogs, and generalized odontodysplasia (GO) was found in six dogs. Both comprehensive oral examination and diagnostic imaging were essential in diagnosing and assessing the presence of odontodysplasia. Awake oral examination failed to identify odontodysplasia in almost 70% of the RO cases. Secondary diseases or lesions in odontodysplastic teeth, such as periodontal disease, endodontal disease, and perio-endo lesions, were commonly seen and were particularly more frequently identified in strategic teeth (canine and carnassial teeth) than non-strategic ones. Similarities, such as female predilection, maxilla more commonly affected, and clinical signs, were observed between RO in dogs and those reported in people. The exact etiology of non-traumatic odontodysplasia remains elusive, and the condition may be of multifactorial causality.

Singleton-Merten syndrome (SMS) is a rare immunogenetic disorder affecting multiple systems, characterized by dental dysplasia, aortic calcification, glaucoma, skeletal abnormalities, and psoriasis. Glaucoma, a key feature of both classical and atypical SMS, remains poorly understood in terms of its molecular mechanism caused by DDX58 mutation. This study presented a novel DDX58 variant (c.1649A>C [p.Asp550Ala]) in a family with childhood glaucoma. Functional analysis showed that DDX58 variant caused an increase in IFN-stimulated gene expression and high IFN-β-based type-I IFN. As the trabecular meshwork (TM) is responsible for controlling intraocular pressure (IOP), we examine the effect of IFN-β on TM cells. Our study is the first to demonstrate that IFN-β significantly reduced TM cell viability and function by activating autophagy. In addition, anterior chamber injection of IFN-β remarkably increased IOP level in mice, which can be attenuated by treatments with autophagy inhibitor chloroquine. To uncover the specific mechanism underlying IFN-β-induced autophagy in TM cells, we performed microarray analysis in IFN-β-treated and DDX58 p.Asp550Ala TM cells. It showed that RSAD2 is necessary for IFN-β-induced autophagy. Knockdown of RSAD2 by siRNA significantly decreased autophagy flux induced by IFN-β. Our findings suggest that DDX58 mutation leads to the overproduction of IFN-β, which elevates IOP by modulating autophagy through RSAD2 in TM cells.

Regional odontodysplasia (ROD) is a rare localized dental developmental anomaly. The typical clinical manifestations of ROD are abnormal tooth eruption, abnormal development of enamel and dentin. The radiographic characteristic is \"ghost teeth\". Its etiology still remains unknown. The care and treatment of a patient with ROD needs a multidisciplinary approach. And the treatment should be taken after the assessment of each individual case of ROD. This paper reviews the definition, etiology, epidemiological features, clinical manifestations, imaging features, dental microstructure and treatment strategies of ROD to provide reference for clinical diagnosis and treatment.
区域性牙发育不良（ROD）是一种罕见的局部牙齿发育异常，临床典型症状为牙齿萌出异常，牙釉质和牙本质发育障碍，影像学表现为“鬼影牙”。ROD病因尚未明确，临床上应根据病例情况制订个性化诊疗方案，进行口腔多学科综合协作的序列治疗。本文详述了ROD的定义、病因、流行病学特点、临床表现、影像学表现、牙齿微观结构和治疗等，以期为临床诊疗提供参考。.

Regional odontodysplasia (ROD) is a localized developmental anomaly involving deciduous and permanent dentition, with a significant impact on patients. The affected teeth display unique ghost-like radiological characteristics, clinically manifesting as delayed tooth eruption, abnormal tooth morphology, and recurrent swelling of gingiva. In this paper, we report a case of a 2-year-old patient with ROD whose chief complaint was facial cellulitis. We analyze the medical history, clinical examination, radiographic findings, and histologic findings, and review the pathological features, pathogenesis, multidisciplinary diagnosis, and treatment of ROD. This rare case, which offers clinical samples for its further study, can provide a deeper study of ROD.
区域性牙发育不良（ROD）是一种局部乳恒牙发育异常，具有独特的鬼影样影像学表现，临床表现为牙齿萌出延迟、形态异常，牙周软组织反复肿胀等，对患者影响深远。本文报告1例因面部肿胀就诊的2岁患儿，通过病史、口腔检查、影像学及组织学检查，结合文献回顾，分析其病理特征、可能发病机制、多学科诊治特点，帮助临床医师深入了解这类罕见病，为进一步研究提供临床样本。.

Regional odontodysplasia (RO) is a rare non-hereditary dental anomaly associated with dysplasia. Its etiology remains unclear but is known to affect both the mesodermal and ectodermal dental components, as well as deciduous and permanent dentitions. Its young age of onset and complexity has great physical and psychological impact on the affected patients. However, the clinical management of RO remains unified without standardized treatment guidelines. Thus, this study aimed to report an RO case, the first from Jiangxi Province, China, and discuss its clinical diagnosis and treatment to provide a reference to treat similar cases more effectively in the future.

Regional odontodysplasia (RO) is a rare developmental abnormality of epithelial and mesenchymal dental tissues. Due to its poorly understood etiology, assessing and discussing related clinical cases of this dental anomaly is crucial to guide professionals in improving its treatment and outcomes. This article aimed to report the case of a 9-year-old male patient who presented to our department with the main complaint of absent eruption of permanent left mandibular quadrant teeth. This is the first case reported in China from a patient with multiple cutaneous nevi on the face and neck, and based on the retrieved clinical and radiographic features, we described and discussed the treatment and etiology of RO.

OBJECTIVE: This review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the molecules involved, and related mechanisms.
METHODS: References on genetic diseases with dentin malformations were obtained from various sources, including PubMed, OMIM, NCBI, and other websites. The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared.
RESULTS: Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumoral calcinosis, Ehlers-Danlos syndrome, Schimke immuno-osseous dysplasia, hypophosphatasia, Elsahy-Waters syndrome, Singleton-Merten syndrome, odontochondrodysplasia, and microcephalic osteodysplastic primordial dwarfism type II were examined. Most of these are bone disorders, and their pathogenic genes may regulate both dentin and bone development, involving extracellular matrix, cell differentiation, and metabolism of calcium, phosphorus, and vitamin D. The phenotypes of these syndromic dentin defects various with the involved genes, part of them are similar to dentinogenesis imperfecta or dentin dysplasia, while others only present one or two types of dentin abnormalities such as discoloration, irregular enlarged or obliterated pulp and canal, or root malformation.
CONCLUSIONS: Some specific dentin defects associated with systemic diseases may serve as important phenotypes for dentists to diagnose. Furthermore, mechanistic studies on syndromic dentin defects may provide valuable insights into isolated dentin defects and general dentin development or mineralization.

DDX58 encodes RIG-I, a cytosolic RNA sensor that ensures immune surveillance of nonself RNAs. Individuals with RIG-IE510V and RIG-IQ517H mutations have increased susceptibility to Singleton-Merten syndrome (SMS) defects, resulting in tissue-specific (mild) and classic (severe) phenotypes. The coupling between RNA recognition and conformational changes is central to RIG-I RNA proofreading, but the molecular determinants leading to dissociated disease phenotypes remain unknown. Herein, we employed hydrogen/deuterium exchange mass spectrometry (HDX-MS) and single molecule magnetic tweezers (MT) to precisely examine how subtle conformational changes in the helicase insertion domain (HEL2i) promote impaired ATPase and erroneous RNA proofreading activities. We showed that the mutations cause a loosened latch-gate engagement in apo RIG-I, which in turn gradually dampens its self RNA (Cap2 moiety:m7G cap and N1-2-2\'-O-methylation RNA) proofreading ability, leading to increased immunopathy. These results reveal HEL2i as a unique checkpoint directing two specialized functions, i.e. stabilizing the CARD2-HEL2i interface and gating the helicase from incoming self RNAs; thus, these findings add new insights into the role of HEL2i in the control of antiviral innate immunity and autoimmunity diseases.

区域性牙发育不良是一种牙釉质和牙本质均发生缺陷的罕见牙齿发育异常，因其典型的影像学表现被称为阴影牙或鬼影牙。常表现为一个象限内的数颗乳牙和恒牙严重发育异常，造成患者不同程度的口腔功能障碍。本文报告3例区域性牙发育不良病例，对其临床表现、影像学检查和临床治疗进行分析。通过回顾相关文献，对本病的发生特点、疾病表现、诊断要点及临床治疗等方面做一总结，结合病例进一步加深对该疾病的认识，以帮助临床口腔医师更好地诊治该疾病。.

BACKGROUND: Type I interferonopathy is a group of autoinflammatory disorders associated with prominent enhanced type I interferon signaling. The mechanisms are complex, and the clinical phenotypes are diverse. This review briefly summarized the recent progresses of type I interferonopathy focusing on the clinical and molecular features, pathogeneses, diagnoses and potential therapies.
METHODS: Original research articles and literature reviews published in PubMed-indexed journals.
RESULTS: Type I interferonopathies include Aicardi-Goutières syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of interferon genes-associated vasculopathy with onset in infancy, X-linked reticulate pigmentary disorder, ubiquitin-specific peptidase 18 deficiency, chronic atypical neutrophilic dermatitis with lipodystrophy, and Singleton-Merten syndrome originally. Other disorders including interferon-stimulated gene 15 deficiency and DNAse II deficiency are believed to be interferonopathies as well. Intracranial calcification, skin vasculopathy, interstitial lung disease, failure to thrive, skeletal development problems and autoimmune features are common. Abnormal responses to nucleic acid stimuli and defective regulation of protein degradation are main mechanisms in disease pathogenesis. First generation Janus kinase inhibitors including baricitinib, tofacitinib and ruxolitinib are useful for disease control. Reverse transcriptase inhibitors seem to be another option for Aicardi-Goutières syndrome.
CONCLUSIONS: Tremendous progress has been made for the discovery of type I interferonopathies and responsible genes. Janus kinase inhibitors and other agents have potential therapeutic roles. Future basic, translational and clinical studies towards disease monitoring and powerful therapies are warranted.