-
Journal of Interferon & Cytokine... May 2017In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened... (Review)
Review
In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened medullary cavities of the phalanges. In 1984, Aicardi and Goutières defined a phenotype resembling congenital viral infection with basal ganglia calcification and increased protein content in the cerebrospinal fluid. Between 2006 and 2012, mutations in 6 different genes were described to be associated with Aicardi-Goutières syndrome, specifically-TREX1, RNASEH2A, RNASEH2B, RNASEH2C, ADAR, and SAMHD1. More recently, mutations in IFIH1 were reported in a variety of neuroimmunological phenotypes, including Aicardi-Goutières syndrome, while a specific Arg822Gln mutation in IFIH1 was described in 3 discrete families with Singleton-Merten syndrome (SMS). IFIH1 encodes for melanoma differentiation-associated gene 5 (MDA5), and all mutations identified to date have been associated with an enhanced interferon response in affected individuals. In this study, we present a male child demonstrating recurrent febrile episodes, spasticity, and basal ganglia calcification suggestive of Aicardi-Goutières syndrome, who carries the same Arg822Gln mutation in IFIH1 previously associated with SMS. We conclude that both diseases are part of the interferonopathy grouping and that the Arg822Gln mutation in IFIH1 can cause a spectrum of disease, including neurological involvement.
Topics: Aortic Diseases; Child; Dental Enamel Hypoplasia; Humans; Inflammation; Interferon Type I; Interferon-Induced Helicase, IFIH1; Male; Metacarpus; Muscular Diseases; Mutation; Odontodysplasia; Osteoporosis; Vascular Calcification
PubMed: 28475458
DOI: 10.1089/jir.2017.0004 -
Case Reports in Dentistry 2016Regional odontodysplasia (ROD) is uncommon developmental anomaly, which tends to be localised and involves the ectodermal and mesodermal tooth components. A...
Regional odontodysplasia (ROD) is uncommon developmental anomaly, which tends to be localised and involves the ectodermal and mesodermal tooth components. A five-year-old female was referred to Department of Child Dental Health at the Leeds Dental Institute regarding malformed primary teeth. On examination 64, 74, and 72 had localised hypomineralized enamel defect. The crown of 55 was broken down with only the root remaining below the gingival level. 54 has a yellowish brown discolouration with rough irregular surface. The upper anterior teeth show mild enamel opacity. Radiographically, 55 and 54 had thin radioopaque contour, showing poor distinction between the enamel and dentine and the classic feature of a wide pulp chamber. 15, 16, and 17 were developmentally delayed and were displaying the characteristic "ghost appearance." Comprehensive dental care was done under local anaesthesia and it included extraction of the primary molars affected by ROD, stainless steel crown on 64, and caries prevention program. Fifteen months following the initial assessment the patient's oral condition remains stable and she is under regular follow-up at the department. Paediatric dentists should be aware of this anomaly as it involves both dentitions and usually requires multidisciplinary care.
PubMed: 28097027
DOI: 10.1155/2016/4574673 -
Journal of Dentistry (Shiraz, Iran) Jun 2016Regional odontodysplasia is a developmental anomaly that affects the primary and permanent dentitions. This disorder is generally localized in only one arch and its...
Regional odontodysplasia is a developmental anomaly that affects the primary and permanent dentitions. This disorder is generally localized in only one arch and its etiology is still unknown. Clinically, the affected teeth have an abnormal morphology and are typically discolored. Radiographically, these teeth show a ghost-like appearance. This paper reported the results of radiographic, histologic and laboratory findings about the case of a 5-year-old girl presenting this rare anomaly. Her familial history was negative for any genetic anomaly, regional odontodysplasia or other dental anomalies. The patient's general health was good and no congenital or acquired disease was reported. She was kept under follow-up care until she reached the age of 10 years. Panoramic radiograph showed the involvement of permanent teeth on the right maxillary quadrant. The affected edentulous quadrant was rehabilitated with temporary acrylic maxillary partial denture. The presentation of this case would hopefully have valuable information for pediatric dentists to review the clinical and radiographic features of regional odontodysplasia, yet expediting the diagnosis and treatment of patients with this condition.
PubMed: 27284563
DOI: No ID Found -
Pediatric Rheumatology Online Journal Jun 2016Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically... (Review)
Review
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-β and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopathies will likely promote the development of targeted therapy.
Topics: Aortic Diseases; Arthritis, Juvenile; Autoimmune Diseases; Autoimmune Diseases of the Nervous System; Dental Enamel Hypoplasia; Homozygote; Humans; Interferon Type I; Lupus Erythematosus, Systemic; Metacarpus; Muscular Diseases; Mutation; Nervous System Malformations; Odontodysplasia; Osteochondrodysplasias; Osteoporosis; Proteome; Rare Diseases; Signal Transduction; Vascular Calcification
PubMed: 27260006
DOI: 10.1186/s12969-016-0094-4 -
Journal of Oral and Maxillofacial... 2016Periapical infection in the primary tooth may lead to periapical abscess, granuloma, radicular cyst and even osteomyelitis. The infection in primary teeth can also...
Periapical infection in the primary tooth may lead to periapical abscess, granuloma, radicular cyst and even osteomyelitis. The infection in primary teeth can also affect the developing successor teeth leading to hypomineralization, hypoplasia, arrest of tooth development, regional odontodysplasia, delayed eruption etc. The purpose of this article is to report a case of malformed permanent tooth in relation to overlying infected deciduous teeth. The probable role of inflammation in pathogenesis of the present condition is also being discussed.
PubMed: 27194886
DOI: 10.4103/0973-029X.180986 -
BMC Dermatology Mar 2016Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin,...
BACKGROUND
Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS).
CASE PRESENTATION
We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD. Genetic testing showed that she was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental examination revealed agenesis of permanent teeth except the two maxillary central incisors. Skin biopsies from the hyperkeratotic palms and soles showed the characteristic changes of eccrine syringofibroadenomatosis, which has been described in patients with ectodermal dysplasias. Together with a family history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia.
CONCLUSION
This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions.
Topics: Adult; Codon, Nonsense; Ectodermal Dysplasia; Female; Homozygote; Humans; Odontodysplasia; Wnt Proteins
PubMed: 26964878
DOI: 10.1186/s12895-016-0040-7 -
Indian Journal of Dentistry 2015Epidermal nevi are hamartomatous lesion and its association with other developmental defects particularly of the central nervous system, eye and skeletal system are well...
Epidermal nevi are hamartomatous lesion and its association with other developmental defects particularly of the central nervous system, eye and skeletal system are well recognized. We report a rare case of inflammatory linear verrucous epidermal nevus syndrome along with regional odontodysplasia; and to the best of our knowledge this is the second case reported in the literature.
PubMed: 26752881
DOI: 10.4103/0975-962X.160348 -
Frontiers in Physiology 2015The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth... (Review)
Review
The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation.
PubMed: 26578979
DOI: 10.3389/fphys.2015.00307 -
Journal of Pharmacy & Bioallied Sciences Aug 2015Regional odontodysplasia (RO) is an uncommon, developmental anomaly of the dental hard tissues that affects ectodermal and mesodermal dental components with...
Regional odontodysplasia (RO) is an uncommon, developmental anomaly of the dental hard tissues that affects ectodermal and mesodermal dental components with characteristic clinical and radiographic findings. Clinically, RO affects a particular segment in either or both dentitions in the maxilla or mandible or both jaws. Radiographic features have consistently demonstrated thin and defective layers of enamel and dentine, resulting in a faint, fuzzy outline, creating a ghost-like appearance. The RO etiology is uncertain; numerous factors have been suggested and considered as local trauma, irradiation, hypophosphatasia, hypocalcemia, hyperpyrexia. A case of RO in a 10-year-old girl whose chief complaint were forwardly placed upper front teeth and the absence of eruption of permanent teeth. Clinical and radiographic features are described.
PubMed: 26538974
DOI: 10.4103/0975-7406.163570 -
The British Journal of Dermatology Dec 2015Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi-Goutières syndrome. To date, seven genes related to...
Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi-Goutières syndrome. To date, seven genes related to Aicardi-Goutières syndrome have been described. The most recently described encodes the cytosolic double-stranded RNA receptor IFIH1 (also known as MDA5), a key component of the antiviral type I interferon-mediated innate immune response. Enhanced type I interferon signalling secondary to gain-of-function mutations in IFIH1 can result in a range of neuroinflammatory phenotypes including classical Aicardi-Goutières syndrome. It is of note that none of the patients with a neurological phenotype so far described with mutations in this gene was reported to demonstrate cutaneous involvement. We present a family segregating a heterozygous pathogenic mutation in IFIH1 showing dermatological involvement as a prominent feature, variably associated with neurological disturbance and premature tooth loss. All three affected individuals exhibited increased expression of interferon-stimulated genes in whole blood, and the mutant protein resulted in enhanced interferon signalling in vitro, both in the basal state and following ligand stimulation. Our results further extend the phenotypic spectrum associated with mutations in IFIH1, indicating that the disease can be confined predominantly to the skin, while also highlighting phenotypic overlap with both Aicardi-Goutières syndrome and Singleton-Merten syndrome.
Topics: Adult; Aortic Diseases; Autoimmune Diseases of the Nervous System; Chilblains; Child, Preschool; DEAD-box RNA Helicases; Dental Enamel Hypoplasia; Heterozygote; Humans; Infant; Interferon-Induced Helicase, IFIH1; Lupus Erythematosus, Cutaneous; Male; Metacarpus; Muscular Diseases; Mutation; Nervous System Diseases; Nervous System Malformations; Odontodysplasia; Osteoporosis; Phenotype; Skin Diseases, Genetic; Tooth Loss; Vascular Calcification
PubMed: 26284909
DOI: 10.1111/bjd.14073