Wednesday, January 18, 2017

Osteogenesis Imperfecta: Clinical Diagnosis, Nomenclature, and Severity Assessment

Resident: Michael Hatton                       Mentor: Dr. Kane                                         Date: 1.18.2017

Article Title: Osteogenesis Imperfecta: Clinical Diagnosis, Nomenclature, and Severity Assessment
Author(s): Van Dijk FS, Sillence DO
Journal: Am J Med Genet Part A 164A:1470-1481
Date: 2014
Major Topic: Special Needs Patients: Osteogenesis Imperfecta
Type of Article: Expert Opinion 
Main Purpose: Review of Osteogenesis nosology
Summary:
Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders. The primary characteristic of these conditions is a lifelong susceptibility to fractures.

Mechanism:
A total of 17 genetic causes of OI have been described; approximately 90% of OI patients of European descent have a mutation in the COL1A1/2 gene, and over 1,000 distinct mutations to this gene have been catalogued.

Severity:
Due to the diverse presentation of OI, a severity grading scale has been proposed, based on clinical findings, historical data, fracture frequency, bone density, and impact on quality of daily life. Severity is graded Mild, Moderate, Severe, or Extremely Severe (See Figure III, below).

General Symptoms of OI include:
·         Increased risk of osteoporosis, due to increased levels of both bone formation and resorption, with proportionally more resorption
·         Increased risk of fractures, due to both primary fragility and secondary to osteoporosis
·         Skeletal deformities, including scoliosis and basilar impression
·         Dentinogenesis Imperfecta may or may not be present, depending on genotype

Classification of OI
·         OI Type 1: Non-Deforming OI with Blue Sclera
o   Blueness of the sclera
o   Juvenile-onset hearing loss
o   Skeletal deformities are rare
o   Most often Autosomal Dominant inheritance
o   Often of Mild or Moderate severity
·         OI Type 2: Perinatally Lethal OI Syndromes
o   Diagnostic hallmarks at 20 weeks gestation include crumpled limbs, bowing of long bones, and deformity of facial and cranial bones, with prenatal rib fractures
o   Constant pain, no chance of normal quality of life
o   Perinatal lethality: 20% are stillborn, 90% will die by 4 weeks
·         OI Type 3: Progressively Deforming OI
o   Multiple perinatal and childhood fractures lead to deformity
o   Usually no blueness of the sclera at adulthood (may or may not be present at birth)
o   Deficient growth, scoliosis
o   Potential for pop-corn appearance to bone, thin osteopenic ribs, wormian skull bones
o   Higher severity, can be fatal without intervention (chest wall deformity, pulmonary hypertension, and cardio-respiratory failure)
·         OI Type 4: Common Variable OI
o   No blueness of the sclera at adulthood (may or may not be present at birth)
o   Hearing loss is rare
o   Prevalence of skeletal deformities varies depending on genotype
o   Most often Autosomal Dominant inheritance, though Autosomal Recessive and X-Linked cases have been documented
o   Severity varies, even within families with the same genotype
·         OI Type 5: OI with Calcification in Interosseous Membranes
o   Characterized by progressive calcification of the interosseous membranes on the forearms and legs, with development of hyperplastic callus after insult to the bone, leading to swelling and pain
o   Elevated serum alkaline phosphatase values
o   Secondary effects lead to restriction of motion of the forearms and dislocation of the radial heads
o   Moderate or Severe in presentation






Thoughts:
The diversity of presentation seen in Osteogenesis Imperfecta is a challenge to treatment, because it is not possible to create treatment guidelines that are applicable to all patients. The fact that in the more common forms of OI, dentinogenesis imperfecta is often correlated to more severe presentation of OI means that there is a distinct population with both heightened dental needs and a greater need for special consideration with treatment, including impaired patient mobility, increased risk for trauma, and complications from bisphosphonate usage.


Level of Evidence: IV
Dr. Kane’s Comments:

It is a good review article on the clinical diagnosis, nomenclature , severity and the genetics of this very complex condition. It is important to understand the classification and the modes of inheritance and this article is important to provide patients and their families with insight into the probable course of the disorder.

Although not discussed in the article, we as  pediatric dentists certainly want to be aware of the dental considerations. Are you aware there is a Osteogenesis Imperfecta Foundation that is helpful to parents and dentists raising and treating children with OI? Check it out at:

http://www.oif.org/site/PageServer?pagename=Dental

Please pay particular attention to treatment with bisphosphonates  (aimed at reduction of osteoclast activity) which is mentioned in the article as well as the Foundation fact sheet. Also, I appreciated Table III in the article that nicely breaks down the severity grading scale of OI.

Just an FYI…..when I took my oral boards, they presented a history of a child with “brittle bones”. The entire case was on a child with OI so you all should pay attention to this condition as it has multiple dental considerations.

Good Luck and I hope this was helpful.



Down Syndrome and sleep-disordered breathing

       Down Syndrome and sleep-disordered breathing


Department of Pediatric Dentistry
Lutheran Medical Center
           
Resident’s Name: Jonathan Kaczmarski   Mentor: Dr. Silva     Date:  01-18-2017
Article Title: Down Syndrome and sleep-disordered breathing
Author(s): Waldman DDS, MPH, PhD; Hasan, Faysal, MD; Perlman, Steven DDS, MScD
Journal: JADA
Date: March 2009
Major Topic: Downs syndrome associated sleep disorders
Type of Article: Summary
Main Purpose: Explain a dentist’s role in treating sleep disorders in down syndrome patients
Key Points: (2 lines Max): Main conclusion or the most interesting


- Sleep apnea is common in Down syndrome, occurring in at least half of the population.

- It is a result of the patient’s anatomical facial abnormalities and decreased muscle tone in the upper airway.

- Diagnosis and treatment of sleep disordered breathing in DS patients has gone unrecognized by parents and health care providers which can lead to learning and behavioral problems. The dentists role in helping to diagnose can potentially reduce the co-morbidities associated with sleep disordered breathing.

- Sequela of OSA include pulmonary hypertension, delayed development and behavioral abnormalities, many of these are often associated with DS patients (maybe OSA is the cause and not DS)

- Sleep abnormalities in children with DS are not always cured by surgical procedures. Since these patients may not tolerate a CPAP, oral appliances are often the best treatment.

-appliances Have 2 categories, tongue-retaining devices and mandibular advancement devices
Tongue retaining devices aren’t used often because the compliance is not good, advancement appliances can be used and adjusted for patient comfort and cooperation.

-Combined reality of deinstitutionalization, increased life span and increased association with OSA leads to need to address OSA to improve the sequela listed above.
Remarks:
1-      Dr. Silva: OSA is emerging as a major public health issue. Dentists should be assessing every patient, pediatric, adult, and those with special needs, for referral to a sleep physician, orthodontist, and/or ENT specialist. How many times have you had a supine patient who has fallen asleep and started to snore? Children with large tonsils and adenoids with narrow maxillary arches should at least be screened for the disorder. Orthodontic intervention and palatal expansion can be of great value, and adenotonsillectomy is ONLY effective in treating OSA in pediatric patients.
In patients with Down Syndrome, the relatively small lumen size of the airway puts them at much higher risk for the disorder than the general population. The author of the article states that true macroglossia is rare in these patients. Regardless, they have RELATIVE microsomia and macroglossia. Their life expectancy  is many years less than the general population, and although I have no research to substantiate my hypothesis, it’s a solid bet that OSA is a contributing factor.
Depending on level of function, patients with Down Syndrome may tolerate CPAP. But if the tolerance rate is 40-60% in the general population (and CPAP “success” is measured as regular use at 4+ hours per night… hardly enough in my opinion), then the tolerance rate will be much lower in the DS population. Oral appliances are well-tolerated (about 75%), but their acceptance and success rates are likely to be significantly lower in the DS population. An emerging reasonable alternative is implanted hypoglossal nerve stimulators which activate the genioglossus muscle to bring the tongue forward during sleep. If OSA is a serious health concern leading to significantly increased morbidity and mortality, a surgical procedure to implant one of these devices should be considered for any patient unable to tolerate CPAP or oral appliance therapy.


Assessment of Article:  Level of Evidence/Comments:

Dental Treatment under GA for Pediatric Patient With Epidermolysis Bullosa (EB)

Department of Pediatric Dentistry
Lutheran Medical Center
Resident: Albert Yamoah, DDS                        Mentor: Dr. Hencler                                            Date: 01/18/2017
Article Title: Management of a Pediatric Patient With Epidermolysis Bullosa Receiving Comprehensive Dental Treatment under General Anesthesia
Author(s): Richard K. Yoon, DDS , Susumu Ohkawa, MD
Journal: Pediatric Dentistry
Date: May /Jun 2012
Major Topic: Dental Treatment under GA for Pediatric Patient With Epidermolysis Bullosa (EB)
Type of Article: Case Report
Main Purpose: To detail clinical considerations and a GA approach for a 3-year-old pediatric dental patient with EB
Key Points:
·  Children often follow a hypercaloric formula due to the bullae formation, difficulty swallowing, and limited mouth opening
·  Combined with poor oral hygiene, this hypercaloric diet results in a high caries rate (due to frequency of sugar intake, not amount)
·  Extensive precaution must be taken for dental treatment of EB patient under GA in OR
·  Prevention is crucial – frequent follow-up (prophy + fluoride) is essential
·  Home care should include meticulous OH with a small headed soft nylon bristled toothbrush softened under warm water
·  Regular use of a non-alcohol-based fluoride rinse
·  Take care to avoid tissue trauma following fabrication of prosthetics that may rub against the oral mucosa or lips
·  Oral antiseptic or topical antibiotics may be used for prevention of secondary infection.
Background
·  Epidermolysis bullosa (EB) atypical genetic disorder
o Frequency of 1/50,000 to 1/500,000, depending on pattern of inheritance and severity
o Characterized by blister formation and extreme fragility of the skin and mucous membranes
o Vesiculobullous lesions occur in response to trauma or heat or can be spontaneous,
o There is no gender or age predilection
o Pathophysiology of EB varies, depending on the particular epithelial and sub epithelial defect along with varying severity
o EB is usually detected at birth or early childhood due to the appearance of bullae and erosion of the skin
o Detailed history regarding the patient’s age at time of bullae appearance, precipitating factors, types and distribution of blisters, progression of the injuries and family history can further aid in diagnosis
o Further evaluations using enzymatic analysis, electron microscopy, immunofluorescence, and immunohistochemistry analysis are necessary to confirm diagnosis of EB and characterize the histological type
·  More than 20 discrete variants of EB have been identified according to the phenotype, inheritance, and histopathology
·  EB is classified into 3 major subgroups based on location of tissue cleavage
o EB simplex is characterized by intraepidermal blistering with relatively mild blistering of the skin and mucous membranes
o Junctional EB has lesions that affect the dermal interface with variable hemidesmosomal abnormalities
o Dystrophic EB, the most severe form, affects the dermis below the lamina densa
§ Increased collagenase activity results in excessive collagenolysis
·  Results in a defect in collagen VII responsible for forming anchoring fibrils
·  These defective anchoring fibrils cause diminished epidermal adherence and separation of the epidermal layer
§ Dystrophic EB can be either autosomal dominant or recessive
·  The dominant form results in atrophic scars and milium
·  The more serious recessive subtype causes continuous formation of cicatricial tissue leading to syndactylia
·  Cutaneous findings: blistering, ulcerations, contractile scars, alopecia, dystrophic nails, syndactylia, facial deformity
·  Extracutaneous findings: eyes, oral mucosa, teeth, gastrointestinal tract, genitourinary tract, musculoskeletal system
·  Common manifestations: microstomia, esophageal webs, iron deficiency anemia, respiratory disorder, malnutrition, and hypoalbuminemia
·  Hair and nails can be absent
·  High incidence of corneal ulcer due to friction from eye movement
·  EB patients in chronic hypermetabolic state due to repeated injury and healing in their skin
·  Energy demands are increased along with the need for greater caloric intake
·  Failure to compensate the increased nutritional needs due to eating difficulties leads to failure to thrive
·  Infection of lesions is common, which can lead to squamus cell carcinome (Poor prognosis for EB patients)
Case Description
·  3 year old female presented to OR for comprehensive dental under general anesthesia
·  Patient was unable to have outpatient treatment due to her young age, extent of dental treatment required, acute stress reaction, and a medical history significant for EB
·  Patient was allergic to penicillin
·  Blister and peeling of skin were found throughout the body
·  Intraoral examination revealed open lesions on the oral mucosal region, erythematous pharynx, multiple dental caries, dental abscesses, and extensive plaque deposits
·  All other physical findings were within normal limits for a child with EB
·  Patient received oral midazolam as a sedative premedication
·  Anesthesia was induced with nitrous oxide, oxygen, and sevoflurane through a mask whose contact surfaces were lubricated with antibiotic ointment and which was lightly held to the face
·  The ECG pad adhesive was lined with Mepilex Transfer and leads were secured to a relatively uninvolved area of the skin
·  The blood pressure cuff was placed around the upper arm over a layer of Vigilon
·  Adhesive part of the pulse oximeter was removed; nonsticky adhesive Mepitac was used to secure the pulse ox on the finger
·  An intravenous catheter was inserted in a relatively uninvolved area on the volar surface of the forearm and secured with Mepitac, then wrapped with gauze
·  To minimize oropharyngeal mucosal trauma and because of a limited mouth opening, nasal endotracheal intubation was facilitated with the use of a fiber optic bronchoscope
·  A small (size 4.5) cuffed endotracheal tube was used to minimize trauma and ensure adequate ventilation
·  The eyes were lubricated, closed, and draped with Mepilex Transfer under the head dressing
·  The endotracheal tube was secured with umbilical tape, there was no tape applied to the patient’s face
·  Anesthesia was maintained with sevoflurane, air and oxygen; analgesia was provided with intravenous fentanyl
·  Patient transfer was performed by picking up non-stick sheets under the patient and patient as a unit, not by sliding the patient, to avoid shearing forces on the skin surface
·  With a throat pack in place, patient was draped; extra padding and wrapping were provided due to the patient’s skin condition
·  All perioral tissues and commissures were protected with lubricant
·  Full-mouth radiographs were taken and read
·  Pulpotomies, stainless steel crowns, composite dental restorations, and dental extractions were completed
·  No sutures were placed, and hemostasis was obtained with Surgicel and pressure
·  The smallest surgical suction tips and retractors were utilized
·  Fluoride varnish was used, and the throat pack was removed with no evidence of blistering or major sloughing of tissues
·  Patient was extubated uneventfully
·  There was no trauma, bleeding, or swelling of the airway and no prolonged bleeding of extraction sites
·  Patient recovered successfully in the recovery room without complications
·  A follow-up visit revealed no postoperative complication
·  The child was placed on a 6-month oral hygiene maintenance follow-up
·  Soft nylon tooth brushing with bristles softened under warm water and a fluoride dentifrice were recommended
Conclusions:
·  Due to the bullae formation – caused by trauma from hard foods and toothbrushing – as well as subsequent difficulty swallowing and limited mouth opening, children often follow a hypercaloric formula
·  Combined with poor oral hygiene, this hypercaloric diet results in a high caries rate
·  Prevention is crucial
·  Frequent follow-up is essential
Remarks:
1. The article would have benefited from remarks related to perio issues
2. Maintenance and prevention should have been highlighted
3. Always recommend running warm water over soft brush prior to brushing
Assessment of Article: 
·   Level of Evidence/Comments: Case report.
·   Recall was set for 6 months. Why not shorter (i.e. 3 months) due to caries risk and associated risk factors?