Dental care approach in patients with osteopetrosis

Detailleur,; Vansteenkiste, Griet; Renard, Marleen; Verdonck, Anna

doi:10.1007/s40368-016-0251-y

Cited by 15 publications

(13 citation statements)

References 14 publications

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“…According to our previous clinical observations and some other references 12, craniofacial bone dysplasia is quite common in osteopetrosis patients. It is unclear whether these phenotypes are the typical features of CLCN7 involved osteopetrosis and whether or how these phenotypes were caused by ClC-7 deficiency.…”

Section: Introductionmentioning

confidence: 76%

ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth

Ji¹,

Li²,

Yang³

et al. 2019

Theranostics

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Human CLCN7 encodes voltage-gated chloride channel 7 (ClC-7); mutations of CLCN7 lead to osteopetrosis which is characterized by increased bone mass and impaired osteoclast function. In our previous clinical practice, we noticed that osteopetrosis patients with CLCN7 mutations had some special deformities in craniofacial morphology and tooth dysplasia. It is unclear whether these phenotypes are the typical features of CLCN7 involved osteopetrosis and whether ClC-7 could regulate the development of craniofacial bone and tooth in some signaling pathways. Methods : First, we collected 80 osteopetrosis cases from the literature and compared their craniofacial and dental phenotypes. Second, four osteopetrosis pedigrees with CLCN7 mutations were recruited from our clinic for gene testing and clinical analysis of their craniofacial and dental phenotypes. Third, we used a zebrafish model with clcn7 morpholino treatment to detect the effects of ClC-7 deficiency on the development of craniofacial and dental phenotypes. General observation, whole mount alcian blue and alizarin red staining, whole mount in situ hybridization, scanning electron microscope observation, lysoSensor staining, Q-PCR and western blotting were performed to observe the in vivo characteristics of craniofacial bone and tooth changes. Fourth, mouse marrow stromal cells were further primarily cultured to detect ClC-7 related mRNA and protein changes using siRNA, Q-PCR and western blotting. Results: Over 84% of osteopetrosis patients in the literature had some typical craniofacial and tooth phenotypes, including macrocephaly, frontal bossing, and changes in shape and proportions of facial skeleton, and these unique features are more severe and frequent in autosomal recessive osteopetrosis than in autosomal dominant osteopetrosis patients. Our four pedigrees with CLCN7 mutations confirmed the aforementioned clinical features. clcn7 knockdown in zebrafish reproduced the craniofacial cartilage defects and various dental malformations combined the decreased levels of col10a1 , sp7 , dlx2b , eve1 , and cx43 . Loss of clcn7 function resulted in lysosomal storage in the brain and jaw as well as downregulated cathepsin K (CTSK). The craniofacial phenotype severity also presented a dose-dependent relationship with the levels of ClC-7 and CTSK. ClC-7/CTSK further altered the balance of TGF-β/BMP signaling pathway, causing elevated TGF-β-like Smad2 signals and reduced BMP-like Smad1/5/8 signals in clcn7 morphants. SB431542 inhibitor of TGF-β pathway partially rescued the aforementioned craniofacial bone and tooth defects of ...

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Section: Introductionmentioning

confidence: 76%

ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth

Ji¹,

Li²,

Yang³

et al. 2019

Theranostics

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“…In selected cases with suspected PHT, cardiac catheterization may be considered for a more accurate assessment 33 . Dental problems such as delay in tooth eruption, crown anomalies, and agenesis are common, and a pre‐HSCT dental assessment is essential in order to screen for issues requiring urgent pre‐HSCT care 34 . However, due to a high rate of complications including maxillary and mandibular osteomyelitis, we try to avoid invasive procedures pre‐HSCT unless necessary 12 .…”

Section: Pretransplant Work‐upmentioning

confidence: 99%

How we approach malignant infantile osteopetrosis

Even‐Or

Stepensky

2020

Pediatric Blood & Cancer

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Malignant infantile osteopetrosis (MIOP) is a rare hereditary disorder characterized by excessive bone overgrowth due to a defect in bone marrow resorption by osteoclasts. In most cases, hematopoietic stem cell transplantation (HSCT) may correct bone metabolism but the rapidly progressing nature of this condition necessitates early diagnosis and prompt treatment to minimize irreversible cranial nerve damage. The management of patients with MIOP presents many unique challenges. In this review, the clinical management of patients with MIOP is discussed, including diagnosis, preparation for HSCT and special transplant considerations, management of unique HSCT complications, and long-term follow-up.

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“…Osteopetrosis is accompanied by many oral problems: delayed or failed tooth eruption, the absence of some teeth, tooth malformation, enamel and dentinal hypomineralization, periodontal membrane defects, and thickened lamina dura [ 4 , 5 , 6 , 7 , 8 , 9 , 10 ]. Delayed or failed tooth eruption is caused by an increasingly insufficient supply of nutrients to the developing tooth germ, which results from increased bone density [ 9 , 10 , 11 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…Dental manifestations of osteopetrosis include defective resorption-related delayed tooth eruption, tooth absence, unerupted and malformed teeth, enamel and dentinal hypoplasia, abnormal pulp chambers, a tendency toward early decay, periodontal membrane defects, a thickened lamina dura, and dental caries-induced early tooth loss [ 4 , 5 , 6 , 7 , 8 , 9 , 10 ]. Sclerosis makes the jaw bones extremely susceptible to infections, osteomyelitis, and fractures [ 2 , 4 , 5 , 6 , 7 , 8 , 9 , 10 ]. Extractions are usually difficult, and bony socket healing is poor, leading to irregular alveolar ridges [ 2 , 4 , 5 , 6 , 7 , 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

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Osteomyelitis Possibly Caused by Exfoliation of Primary Teeth in a Patient with Osteopetrosis

et al. 2022

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Osteopetrosis is a rare inherited skeletal disease characterized by increased density in the bones and can be detected by radiographs. Sclerosis makes the jaw bones extremely susceptible to infections, osteomyelitis, and fractures. Here, we report a case of osteomyelitis possibly caused by spontaneous exfoliation of primary teeth in a patient with osteopetrosis. A 2 years and 9 months (2Y9M)-old boy with osteopetrosis was referred to our clinic for oral management. Only four primary central incisors had erupted, and they all exhibited hypoplasia. The mandibular right central primary incisor suddenly became exfoliated at 4 years and 1 month. The mandibular right lateral primary incisor also became exfoliated at 4 years and 3 months, soon after eruption, and the mandibular left central primary incisor became exfoliated at 4 years and 5 months. Subsequently, we confirmed the eruption of calcified tissue at 4 years and 9 months in the location where the mandibular right lateral primary incisor had become exfoliated. The patient was admitted to the pediatrics clinic for mandibular cellulitis at 5 years and 2 months, then referred to our clinic for the management of osteomyelitis. The patient’s acute inflammation was reduced by repeated irrigation and the administration of antibiotics; the inflammation gradually became chronic. When treating patients with osteopetrosis, dentists and oral surgeons should prioritize infection control in the jaw, periodic assessment of dental eruption, and the maintenance of oral hygiene.

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Dental care approach in patients with osteopetrosis

Cited by 15 publications

References 14 publications

ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth

ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth

How we approach malignant infantile osteopetrosis

Osteomyelitis Possibly Caused by Exfoliation of Primary Teeth in a Patient with Osteopetrosis

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