case report
A 3-year-old boy, AL, was referred by a consultant oral surgeon to the Department of Pediatric Dentistry, Cardiff University Dental Hospital, with recurrent swelling of the cheeks around the LRB and LRC. The patient was initially referred by a General Practitioner (GDP) to the Department of Oral and Maxillofacial Surgery, Prince Charles Hospital, Messer. Medically, AL was diagnosed with hereditary hypophosphatemic rickets (HHR) with X-linked dominant transmission at one year of age and received care from a pediatric endocrinologist, plastic surgeon and consultant nephrologist .
Relatives affected by the disease are the patient's mother and maternal grandfather, who have two affected sisters. The condition is known to affect two generations.
During AL's first visit, her parents reported recurrent gingival inflammation beginning at age 2.5, requiring antibiotics. On extraoral examination, the patient was short in stature with bent legs (figure 1).
The patient had temporary teeth in his mouth, and his oral hygiene was good. No clinical signs of dental caries were found. There are buccal sinuses associated with ULA and LRB. Patient with open anterior teeth and generalized spacing (figure 2).
Lateral oblique films, maxillary anterior occlusal films, intraoral apical LRA and LRB films (image 3). X-ray examination revealed granular mandible with thinned mandibular cortex, thin layers of enamel and dentin in all teeth, especially maxillary anterior teeth, and enlarged pulp chamber consistent with HHR. Occlusal caries was diagnosed in LRE with periapical translucency involving ULA and consistent with loss of viability. There was apical translucency associated with the apices of ALL/unerupted LL1 incisor crowns, which could be attributed to the enlarged LL1 alveolar bone but, based on the patient's history, could have been due to ALL-associated infection. LR1 alveolar spaces were seen; however, there were no clinical signs of AKI infection. There is also no evidence of second premolar development.
Restorative treatment consisted of placement of prefabricated metal crowns on all primary molars using the Hall technique while the patient was awake. Aquasil® Low to Medium Density Silicone (Dentsply) was used to make laboratory-made impressions of full coverage composite crowns of all four main canines and maxillary anterior lateral incisors. they are glued with opaquewater(Kuraray Dental). The remainder of the treatment was performed under general anesthesia and included the extraction of all primary central and primary mandibular lateral incisors. The post-treatment view is displayed onFigure 4.
At AL's six-month follow-up, her parents reported significant improvements in her eating and sleeping within two days of her general anesthesia visit. The buccal gingiva of the extracted ULA area remained slightly erythematous, which was attributed to post-infection healing. All restorations were intact with no evidence of new alveolar infection.
After one year of treatment, there were no reports of recurrent pain or swelling. Apart from minor difficulties related to missing incisors, the patient ate a normal diet. Coming out of the mouth, the patient has grown. Plaque-associated gingivitis developed, and the ULB crown was smoothed to reduce plaque retention. The patient was included in a six-month follow-up plan.
discuss
Hereditary hypophosphatemic rickets (HHR), formerly known as vitamin D-resistant rickets, is a genetic disorder associated with low blood phosphorus levels, leading to defects in bone mineralization and dentin matrix.1
HHR can be classified as autosomal dominant, autosomal recessive, and X-linked dominant; the latter is the most common form, with an estimated frequency of 1 in 20,000. The X-linked form is caused by mutations in a phosphate-regulated gene homologous to endopeptidase (PHEX) on the X chromosome. This results in elevated levels of fibroblast growth factor 23 (FGF23), a bone-derived hormone, that impairs phosphate absorption in the gut and reabsorption in the proximal renal tubules, leading to excessive phosphate excretion.2
Diagnosis is based on a combination of clinical, laboratory, and radiological findings. Typical findings are low serum phosphate levels and decreased tubular phosphate reabsorption corrected for glomerular filtration rate (TmP/GFR). Radiographically, changes in the metaphysis and rickets (extension of the front end of the ribs into the costal cartilaginous joint) may occur.3
The clinical presentation of HHR is similar regardless of the mode of inheritance. Skeletal features include short stature, progressive flexion of the lower extremities, especially around age 2 years, when the child begins to walk, and cranial deformities, including forehead humping.4Affected infants and children may be irritable and weak with high blood pressure muscle and bone pain.
dental performance
The characteristics of HHR teeth can be seen in the primary and permanent dentition and are summarized astabla 1.They may be the first sign that a patient has HHR and should prompt the clinician to refer the patient for medical evaluation. One of the most common dental symptoms associated with HHR is the spontaneous formation of abscesses and sinuses associated with the absence of cavities.2There is also evidence of reduced arch size in children with HHR.5
| clinical manifestations |
| radiographic features |
| histological features |
Medical Administration
Treatment consists of oral phosphate and calcitriol supplements to compensate for renal phosphate loss. Evidence on the effectiveness of drug therapy in preventing or treating dental defects is inconclusive, and effects on permanent teeth are only improved if started as soon as possible after birth.2
Dental Management
Because of the high risk of spontaneous dental abscesses, HHR patients must be checked every three to six months. This should include regular x-rays of permanent teeth and pulp sensitivity testing. It is also important to evaluate for gingival recession, which exposes dentin.
Pulp necrosis in non-carious teeth of HHR patients is thought to be due to the passage of microorganisms through craters and microcracks in the enamel surface and through the large interglobular spaces within the dentin due to unbound enamel.7,8Dental treatment should aim to prevent spontaneous dental abscesses by sealing the enamel and preventing bacterial entry. Professional cleanings, fluoride varnishes, sealants, stainless steel crowns and composite restorations are recommended for primary and permanent teeth.9,10,11,12
Factors to consider when placing composite restorations in HHR patients include retention issues and the risk of pulp irritation. Irregular enamel and dentin properties reduce the bonding potential of composite restorations, thus requiring close control of the restoration. Low viscosity composite resins are recommended.9Due to its ability to penetrate the pits on the surface of the enamel.8
For HHR patients, self-etching adhesives are recommended.2,9Although the tensile strength of all-etch adhesive systems has been shown to be higher than self-etch adhesive systems when bonded to composites,13It is believed that the additional etching steps associated with total-etch systems may cause pulp irritation due to enamel and dentin irregularities.
Although such techniques have been proposed, there are no documented cases of the use of indirect composite crowns on deciduous anterior teeth of HHR patients. This was considered an appropriate technique for the AL patient due to his widely spaced and open anterior teeth, which eliminated the need for tooth reduction. It also reduces the clinical time involved in placing direct composite restorations, which requires patient cooperation and moisture control over extended periods of time. One option for the anterior teeth of AL patients in the absence of spacing is the direct application of composites.
The use of prophylactic stainless steel crowns on primary molars in patients with HHR has been reported,12This is the technique of choice for AL patients. Tooth reduction is not necessary due to spacing in the posterior region, but placement of flexible spacers is preferable to tooth reduction if space is insufficient. The use of chrome crowns14and prophylactic pulpotomy to preserve primary dentition after abscess formation15Though they are now outdated and have a high failure rate, according to reports. Therefore, extraction of an abscessed tooth may be preferable.
When the permanent molars erupt, it is recommended that patients with severe injuries (as indicated by the age of abscess onset) protect their occlusal surfaces with a temporary fissure/composite sealant or glass ionomer sealant. After the permanent molars have fully erupted, full canine-covered occlusal liners or all-metal crowns should be considered as they require less tooth reduction than ceramic crowns, which is especially important in younger patients with pulpal angles.
Permanent teeth affected by pulp necrosis should be endodontically treated or extracted. If endodontics are to be performed, the filling must be void-free and must ensure a good apical and coronal seal, preferably a thermoplastic filling. In immature permanent teeth, an abscess may develop before the root is fully developed, so MTA or revascularization may be required.
Patient AL underwent a six-month visit program that included enhanced prophylaxis recommendations, maintenance of the prosthesis, and clinical and radiological evaluation. His mother reported that most of his dental problems were related to the permanent dentition, so preventive restorative treatment was especially important when an AL patient was hospitalized with mixed dentition.
application
Dentists may be the first to notice symptoms of HHR. Patients with HHR have irregular enamel and dentin and are more prone to spontaneous dental abscesses and premature tooth loss. Early prevention is essential and should include direct or indirect anterior composite restorations to avoid tooth reduction, and posterior resin sealants or stainless steel crowns. Once the permanent molars start to erupt, an attempt should be made to seal them with a fissure sealant/composite or glass ionomer material, keeping in mind complete tooth coverage. The use of nonviable pulpotomy to preserve an abscessed primary tooth is unlikely to be successful and extraction may be preferred. Regular monitoring of these patients is warranted.
FAQs
What are the dental issues with XLH? ›
X-linked hypophosphatemia (XLH) is a rare, hereditary, and lifelong phosphate-wasting disorder characterized by rickets in childhood and impaired teeth mineralization. In the oral cavity, spontaneous abscesses can often occur without any clinical signs of alteration of the causal tooth.
Does an abscess baby tooth need to be pulled? ›If an abscess occurs in one of your child's primary or baby teeth, it will most likely need to be extracted. Depending on the location of the extraction, a space maintainer may be necessary until the permanent tooth emerges to prevent the surrounding teeth from drifting into the open space.
What causes dental abscesses in children? ›Periodontal abscesses are usually caused by gum disease. The bacteria in plaque can irritate the gums and cause inflammation (swelling). Gradually, the connection between the tooth and gum loosens, leaving a space in which bacteria can collect and form an abscess.
How does hypophosphatemia cause rickets? ›Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets.
What is the new treatment for XLH? ›The U.S. Food and Drug Administration today approved Crysvita (burosumab-twza), the first drug approved to treat adults and children ages 1 year and older with x-linked hypophosphatemia (XLH), a rare, inherited form of rickets. XLH causes low levels of phosphorus in the blood.
What is the treatment for XLH? ›Treatment of XLH focuses on the correction of phosphate levels in the blood and oral vitamin D therapy to ensure adequate bone growth and development. If diagnosed early, pain and leg bowing typically improve with frequent oral administration of phosphate and high-dose calcitriol (active form of vitamin D) therapy.
Why does my son keep getting abscesses in his mouth? ›Damage to the tooth, untreated tooth decay, or gum disease can cause an abscessed tooth. An abscessed tooth needs to be treated by a dental professional right away. If it is not treated, the infection could spread to other parts of your child's body. A dentist will give your child antibiotics to stop the infection.
What is the strongest natural antibiotic for tooth infection? ›- Clove. Clove possesses anti-inflammatory and anti-bacterial properties that have been widely studied and proven. ...
- Garlic. Garlic also acts as an anti-inflammatory and antibacterial. ...
- Turmeric. Turmeric is a common spice used in many kitchens. ...
- Warm salt water rinses. ...
- Ginger.
Tooth infections are severe and generally need people to be treated with antibiotics before proceeding with the removal. In such cases, dentists prefer performing endodontic therapy to preserve the tooth. However, if the tooth's internal structure is affected, the only alternative available is to extract the tooth.
What is the most common dental abscess in children? ›In children, periapical abscess is the most common type of dental abscess.
What are the root causes of abscess? ›
Causes of abscesses
Most abscesses are caused by a bacterial infection. When bacteria enter your body, your immune system sends infection-fighting white blood cells to the affected area. As the white blood cells attack the bacteria, some nearby tissue dies, creating a hole which then fills with pus to form an abscess.
If you suspect your child may have a tooth abscess, you should contact your child's dentist right away. A pediatric dentist can use dental X-rays to confirm the presence of the abscess and determine its exact location. Swelling in the gums near a tooth can be a sign of a periapical abscess.
Is hypophosphatemic rickets a hereditary disease? ›Inheritance. Hereditary hypophosphatemic rickets can have several patterns of inheritance. When the condition results from mutations in the PHEX gene, it is inherited in an X-linked dominant pattern . The PHEX gene is located on the X chromosome, which is one of the two sex chromosomes .
What are the signs and symptoms of hypophosphatemic rickets? ›Symptoms of Hypophosphatemic Rickets
and other bone deformities, bone pain, joint pain, and poor bone growth with short stature. Bony outgrowths where muscles attach to bones may limit movement at those joints.
In conditions of hypocalcemia or hypophosphatemia, vitamin D stimulates bone resorption, thereby maintaining serum levels of calcium and phosphorus. vitamin D deficiency or resistance thus causes hypocalcemia and hypophosphatemia.
What type of doctor treats hypophosphatemia? ›Nephrologist. Kidney doctors (nephrologists) are trained to diagnose, treat, and manage diseases that affect the kidneys. Kidney conditions may also affect blood pressure or fluid and mineral balances in the body.
How much does Crysvita cost? ›The cost for Crysvita subcutaneous solution (twza 10 mg/mL) is around $4,344 for a supply of 1 milliliter(s), depending on the pharmacy you visit. Quoted prices are for cash-paying customers and are not valid with insurance plans.
When is Hypophosphataemia treated? ›Once serum phosphate levels reach 1.5 md/dL, therapy should be switched to oral replacement. The intracellular nature of phosphate makes interpreting a low serum phosphate level difficult and predicting the amount required to replenish cellular stores nearly impossible.
Is XLH Curable? ›While there's no cure for XLH, early and regular treatment can help prevent disease progression, reduce symptoms, and improve overall quality of life.
Is XLH progressive? ›X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disease that often causes pain and short stature, as well as decreased physical function, mobility, and quality of life.
How long can a mouth abscess go untreated? ›
Left untreated, a tooth abscess will eventually spread to the surrounding tissues and beyond, wreaking havoc on your oral and overall health. It can take weeks or months for the infection to spread — and it's impossible to know exactly how long that will take.
What is the most common cause of dental abscess bacteria? ›- poor oral hygiene – plaque can build-up on your teeth if you don't floss and brush your teeth regularly.
- consuming lots of sugary or starchy food and drink – these can encourage the growth of bacteria in plaque and may lead to decay that can result in an abscess.
- brush your teeth with fluoride toothpaste at least twice a day - spit after brushing, do not rinse.
- clean in between your teeth every day using floss or interdental brushes.
- replace your toothbrush every 1 to 3 months.
- have regular dental check-ups so problems can be spotted early.
Yes, applying a cotton ball soaked in regular Listerine on an infected tooth will relieve tooth pain. Listerine is about 27% alcohol, and alcohol numbs nerve endings.
What is the most painful tooth to extract? ›What is the most difficult tooth to extract? Impacted wisdom teeth are wisdom teeth that have failed to erupt properly. They are generally considered to be the most difficult teeth to extract.
Will the ER pull an abscessed tooth? ›An emergency room is the only facility that has the necessary equipment and personnel to handle the abscessed tooth and contain any widespread infection. Here, a CT scan can be done to establish the spread of the infection in addition to one being taken to the operating room to undergo oral incision and drainage.
What is oral sepsis? ›Dental sepsis occurs when the pulp chamber of the tooth is exposed to the oral cavity or external environment, allowing bacterial localization with resulting infection.
Are some people more prone to dental abscesses? ›While good oral hygiene is important for tooth health, it is not a guarantee that an abscess will never grow. However, poor brushing habits, a bad diet, and smoking can all contribute to the possibility of bacteria buildup and infection, making an abscess more likely.
How rare is sepsis from tooth abscess? ›Sepsis following a bacterial infection from a dental condition or treatment is rare. However, it can be a life-threatening condition if patients are not managed appropriately.
What are the late stages of a tooth abscess? ›In the later stages of tooth decay, after the bacteria has entered the pulp of the tooth or made its way deeper into the gums or jawbone, you may notice pain surrounding the tooth, along with gum redness and swelling. A severe abscess can also trigger a fever.
Why am I prone to tooth abscesses? ›
Frequently eating and drinking foods rich in sugar, such as sweets and sodas, can contribute to dental cavities and turn into a tooth abscess. Dry mouth. Having a dry mouth can increase your risk of tooth decay. Dry mouth is often due to the side effect of certain medications or issues related to aging.
What is the strongest antibiotic for abscess? ›Penicillin can be called the mother of antibiotics and that's why it is the best antibiotics for tooth infection as well. Dentists may describe you just the penicillin for your early dental abscess.
What is the condition where you are prone to abscesses? ›Hidradenitis suppurativa (HS) is a painful, long-term skin condition that causes abscesses and scarring on the skin.
What hormonal abnormality causes rickets? ›Pseudovitamin D deficiency rickets (vitamin D dependent rickets, type I) is characterized by skeletal changes and weakness similar to severe vitamin D deficiency. This disorder is caused by abnormal vitamin D metabolism and is inherited in an autosomal recessive pattern.
What is the prognosis for rickets? ›Outlook (Prognosis)
If rickets is not corrected while the child is still growing, skeletal deformities and short stature may be permanent. If it is corrected while the child is young, skeletal deformities often improve or disappear with time.
Major symptoms of this type of rickets include bowed legs, bone pain or tenderness, restlessness and slow growth. This disorder occurs in the United States but is most frequent in other areas of the world.
What is vitamin D resistant hypophosphatemic? ›Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity.
What alkaline phosphatase level is hypophosphatemia? ›Considering the rarer hereditary forms of hypophosphatemic rickets, the biochemical features at presentation of pediatric patients affected by Autosomal Dominant Hypophosphatemic Rickets (ADHR) report ALP levels ranging from 190 IU/L to 1755 IU/L, with most values below 1000 IU/L (27).
What foods should you avoid if you have hypophosphatemia? ›Limit your intake of milk, cheese, cottage cheese, yogurt, and ice cream. Limit your intake of meat, fish, poultry, eggs, beans, and nuts. Avoid or eliminate soft drinks (soda pop). Avoid foods and drinks that contain added phosphorus or phosphates.
Can low phosphate cause anxiety? ›Symptoms of phosphorus deficiency include loss of appetite, anxiety, bone pain, fragile bones, stiff joints, fatigue, irregular breathing, irritability, numbness, weakness, and weight change.
Can low vitamin D make you feel weird? ›
Symptoms of vitamin D deficiency may include:
Fatigue. Not sleeping well. Bone pain or achiness. Depression or feelings of sadness.
Patients with hypophosphatemic rickets often exhibit high pulp horns, large pulp chambers, and dentinal clefts. The management of these cases remains controversial. Some authors advocate extraction of the teeth that present periradicular abscesses and eventual restoration with implants.
How does hypophosphatasia affect teeth? ›The most frequent dental signs of hypophosphatasia in children are premature loss of primary teeth, decrease in height of alveolar bone, and malocclusions. Enzyme replacement therapy with Asfotase alfa might be associated with stabilization of dental status.
What are the dental problems in rickets? ›Vitamin D dependent rickets affects children younger than 2 and causes metabolic abnormalities that are generally treated with supplemental doses of calcitriol. Oral manifestations include delayed tooth eruption, dentinal defects, large pulp chambers, and enamel hypoplasia.
What effects does hemochromatosis have on teeth? ›Milk and cheese contain lactoferrin, which is a protein that loves to bind to iron so if you have haemochromatosis and love to nibble on cheese then the lactoferrin will couple with the extra iron and dump it on the teeth leaving ferocious black staining and blue-grey gums.
Does hypophosphatasia affect permanent teeth? ›Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation.
What are two of the causes of hypophosphatemia? ›Hypophosphatemia is a serum phosphate concentration < 2.5 mg/dL (0.81 mmol/L). Causes include alcohol use disorder, burns, starvation, and diuretic use. Clinical features include muscle weakness, respiratory failure, and heart failure; seizures and coma can occur.
Who is most at risk for hypophosphatemia? ›Risk factors for hypophosphatemia
It's common in people who are admitted to the hospital. If you're malnourished from eating disorders, alcoholism or long-lasting diarrhea, you're at greater risk for getting this condition. People with severe burns and complications from diabetes are also at risk.
Perinatal HPP is often fatal. Mortality among patients with perinatal or infantile HPP has ranged from 58 to 100 percent within the first year of life.
What are the first symptoms of hypophosphatasia? ›Prenatal and infantile hypophosphatasia: When infants are born with less noticeable signs of HPP or no signs at all, other symptoms within the first six months can be indications of the condition. These may include poor feeding, frequent vomiting, a failure to gain weight, breathing problems or seizures.
Can you live a normal life with hypophosphatasia? ›
Patients with childhood HPP typically survive, but many have chronic manifestations of disease. As previously noted, such manifestations may directly affect growth, mobility, and quality of life.
What are 2 signs and symptoms of rickets? ›pain – the bones affected by rickets can be sore and painful, so the child may be reluctant to walk or may tire easily; the child's walk may look different (waddling) skeletal deformities – thickening of the ankles, wrists and knees, bowed legs, soft skull bones and, rarely, bending of the spine.
What are the five symptoms of rickets? ›- pain or tenderness in the bones of the arms, legs, pelvis, or spine.
- stunted growth and short stature.
- bone fractures.
- muscle cramps.
- teeth deformities, such as: delayed tooth formation. holes in the enamel. ...
- skeletal deformities, including: an oddly shaped skull. bowlegs, or legs that bow out.
Rickets is a bone disease that affects infants and young children. The child's growing bones fail to develop properly due to a lack of vitamin D. This can result in soft and weakened bones, fractures, bone and muscle pain, and bony deformities.
What is the most commonly affected organ in hereditary hemochromatosis? ›Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems.
What is the first organ affected in hemochromatosis? ›The liver is the organ most affected by hemochromatosis, because of its relatively large blood flow. Blood from the portal circulation (which comes from the intestines) goes straight to the liver. Once the body absorbs iron, it is not lost until blood is lost.
Can low iron rot your teeth? ›Iron and other vitamins are essential for good oral health. The iron helps keep the teeth strong and the vitamins help keep the teeth and gums healthy. If the teeth and do not get the nutrients they need because of anemia, they can suffer. They become more prone to tooth decay and gum disease.