Trichodental Dysplasia: A Rare Syndrome With Distinct Dental Findings 6/11/10

Department of Pediatric Dentistry
Resident’s Name: Murphy Program: Lutheran Medical Center - Providence

Article title: Trichodental Dysplasia: A Rare Syndrome With Distinct Dental Findings
Author(s): Montalvan DMD, Ericka. Christina Mazzone, DMD. Nanci Tofsky, DMD, MM, DMD
Journal: Pediatric Dentistry
Year. Volume (number). Page #’s: 2006. 28:4. 345-349
Major topic: Presentation of Trichodental Dysplasia(TD)
Minor topic(s): Ectodermal Dysplasia and it’s MANY variants
Main Purpose: To present the clinical, radiographic, and genetic features of a 4yo child w/ TD that will add to the exsisting knowledge of this rare syndrome
Overview of method of research: Case Report

Findings: Congenital absence of 1 or more teeth w/o any anomalies is common, happening in up to 8% of the human population. A rarer cause of missing teeth is ectodermal dysplasia. With ED, hair, nails, skin, and teeth can all be affected at the same time. TD is a rare autosomal dominant variant of ED that affects only the teeth and hair. TD has been described in a number of families. Only a small handful of cases have been reported. Teeth in children with TD are described as having normal enamel, extremely thin dentin, very large pulps, and short roots. They have been described as ‘shell teeth’, or ‘Ghost teeth’. Hair in patients with TD is fine, lusterless, sparse, and slow growing. The lateral ends of the eyebrows are thin as well. Other possible signs are microcephaly, frontal bossing, and mild retardation.
In this case, a 4 yo Hispanic male presented to UMDNJ. He had thin sparse hair, frontal bossing, thin eyebrows, and a fairly large head. His mom said a CT scan was performed to assess the size/shape of his head, and that everything came back normal. The boy did not have any abnormal sweating, and no history of any fractures. His fingernails had some creasing, and mild clubbing. Intra orally, pulp chambers were visible through the lingual surfaces of his maxillary incisors, and through the occlusal of the molars. There was extensive attrition, and he had 6 abscessed teeth. Radiographically, it could be seen that his permanent teeth was of the same variety. The boy was sent to a geneticist, for evaluation, and the geneticist confirmed the original diagnosis of TD.
Treatment under GA was decided on. The 6 abscessed teeth were extracted. All of the other molars got SSC’s. The anterior teeth were left alone for fear of pulpal exposure. He was put on frequent recalls for eval, as well as daily Fl regiment.

Key points/Summary: While TD is rare, it is not uncommon to see children with ED. Treatment should include protecting the teeth best as possible with crowns, frequent recall visits.

Assessment of Article: Good case report. Nothing too Earth shattering

Otodental Syndrome: A Case Report

Resident: Adam J. Bottrill
Date: 11JUN10
Region: Providence
Article title: Otodental Syndrome
Author(s): Colter, J.D. et al
Journal: Pediatric Dentistry
Page #s: pp. 482-485
Year: 2005, 27:6
Major topic: Otodental Syndrome
Minor topic(s): NA
Type of Article: Case Report
Main Purpose: Present a case report of the rare Otodental Syndrome

Key points in the article discussion:

I. Otodental Syndrome

A. Abnormalities in dental crown morphology

1. Max/Man primary and permanent incisors normal
2. Canines and molars large and bulbous in both dentitions
3. Canines of both dentitions present with yellow hypoplastic areas on labial surf.
4. Cusps of affected molars separated by deep vertical enamel fissures.
5. Abnormal molars MAY be result of fusion.
6. Pulp chambers of molars often duplicated. (difficult endo)
7. Absent or micro premolars.
8. Conical supernumeraries and odontomas.

B. Hearing

1. Loss of hearing typically above 1,000Hz.
2. Can start as early as 2-3 yo or as late as puberty.
3. Not all patients present with hearing loss.

C. Etiology

1. Inherited... Autosomal dominant.
2. Variable penetrance and expressivity.
3. Genes: BMP4, MSX1, FGF8, BARX1, DLX1/2

D. Case

1. 9 yo male, NSMH (hearing was not effected),
2. DH: ext of Max left prim 2nd molar due to ectopic eruption of perm molar.
3. Exam: Multiple carious lesions, canines and molars large, spherical and bulbous in perm and prim dentition, deep vert enamel fissures, 6-8 cusps on each tooth, hypoplastic areas on labial surfaces of canines, duplicated pulp chambers, supernumeraries or odontomas, micro premolars, 4. Hearing test not performed.

E. Dental Concerns

1. Dx from dentist (semper vigilans!!!)
2. Future endo concerns
3. OH and preventative care EXTREMELY IMPORTANT

Assessment of article: If I were to do a case presentation on otodental syndrome, I probably would have waited for the hearing tests to be done before I published... shenanigans.

Severe Periodontitis in a 5 year old Girl with Hyperimmunoglublin E Syndrome

Resident: Roberts

Date: 6/11/10

Article title: Severe Periodontitis in a 5 year old Girl with Hyperimmunoglublin E Syndrome

Author: Tsang, P et al.

Journal: Pediatric Dentistry

Volume: 27:1 pages: 73

Year: 2005

Type of article: Case report

Discussion:

Hyperimmunoglobulin E syndrome is a multisystem(HIES) disorder that affects the 1. dentition 2. skeleton 3. connective tissues 4. immune system. This disorder is also known as Jobs syndrome and Buckley’s syndrome. It can be autosomal dominant or recessive or may not have any apparent genetic link at all. Major manifestations of the disease include elevated serum E levels, chronic eczematoid dermatitis, recurrent skin abcesses, prominant forehead, deep set eyes, broad nasal bridge, mild prognathism, scoliosis, joint hyperextensibility and decreased bone density. Retention of primary teeth is a feature found in Autosomal dominant patients. In the recessive form skeletal and dental abnormalities are not usually present.

Case report

A 5 year old girl who has suspected autosomal recessive HIES syndrome presented with profuse bleeding, painful gingiva and generalized aggressive periodontitis. A microbiological examination detected P. gingivalis, T. forsythia, P, nigrescens, T. denticola, E. corrodens, and C. rectus but did not show the presence of A. A. All teeth except E, F, G showed 5 mm or more of probing depths and class 3 mobility. Advanced alveolar bone loss was present and only minor interproximal lesions present. Treatment included extraction of all primary teeth which resulted in elimination of soft tissue inflammation. Main management strategies are 1. Prophylatic antibiotics, 2. timely treatment of infections, 3. surgical intervention as necessary.

Trisomy 9

Resident’s Name: Joanne Lewis Date: June 11, 2010

Article title: Dental Management of a Child With Trisomy 9 Mosaicism: A Case Report

Author(s): Moti Moskovitz, DMD, PhD, et al

Journal: Pediatric Dentistry – 28:3 2006

Type of Article: case report

Summary: Affected patients present with congenital heart disease, skeletal and genito-urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia, and mental retardation. Facial/oral manifestations include upward-slanted eyes, small palpebral fissures, microphthalmos, broad base and prominent tip of the nose, low-set malformed ears, microcephaly, micrognathia, protruding upper lip, pouched cheeks, cleft lip/palate, narrow high-arched palate, small mouth, and down-turned mouth. Mosaicism for trisomy 9 predicts longer survival than non mosaic trisomy 9. The patient in this case report was born at 37 weeks gestation after an uncomplicated pregnancy to Ashkenazi Jewish parents who have 4 other healthy children. Facial dysmorphic features include: narrow high arched palate, short philtrum, low set ears. Oral findings include a supernumerary tooth, and opalescent color change in maxillary central incisors. Also, severe psychomotor retardation and short stature. The patient was treated at age 11 under GA, and again at age 13 under oral conscience sedation. Skeletal abnormalities and tendency to vomit were reasons to treat in a more upright position and to use constant suction during treatment.

Dental Treatment of a Child with Rubinstein-Taybi Syndrome

Department of Pediatric Dentistry

Lutheran Medical Center

Kris Hendricks Date: 6-11-10

Article title: Dental Treatment of a Child with Rubinstein-Taybi Syndrome

Author(s): Davidovish, Eimerl, Peretz

Journal: Pediatric Dentistry

Volume (number): 27/5

Month, Year: 2005

Major topic: Rubinstein-Taybi syndrome (RTS)

Minor topics: N/A

Type of Article: Case Report

Main Purpose:

Demonstrate the oral and dental manifestations of a 12-year old girl with RTS and discuss her dental treatment with emphasis on her medical consideration.

Findings:

RTS is a genetic disorder characterized by mental retardation, and physical abnormalities including broad thumbs, big and broad toes, short stature and craniofacial abnormalities.

The oral manifestations include small opening, pouting lower lip, retro/micrognathia and higher arched, narrow palate.

Key points/Summary :

There are very few reports of this syndrome in the dental literature.

Rarely this syndrome can present with clefting.

This patient had to be treated under GA.

The anesthesia was complicated, so they used fiberoptic endoscopy.

This patient had significant crowding and an orthodontist recommended premolar extractions to alleviate crowding, but the foster parents did not choose to do that.

The foster parents were unable to convince the dental team that they could care for the child’s needs.

Assessment of article:

Nice article.

Dental findings associated with the malformations of CHARGE

Department of Pediatric Dentistry
Lutheran Medical Center

Resident’s Name: Craig Elice Date: 6/11/2010
Article title: Dental findings associated with the malformations of CHARGE
Author(s): Sheneifi TA, Cottrell DA, Hughes C..
Journal: Ped Dent: 24:1
Month, Year: 2002 43-6
Major topic: CHARGE
Type of Article: Case Report
What is affected in this syndrome? Major criteria for diagnosis include Colomba of the eye, Atresia of Choanae, multiple cranial nerve deficits including deafness, vision impairment, poor swallowing; and Ear abnormalities involving the inner, middle, and outer ear. The choanal atresia causes breathing difficulties and cyanosis within the first hour of life and requires surgical intervention early in life. Minor criteria include Heart defects like tetralogy of Fallot, septal defects or valvular stenosis, genital hypoplasia, orofacial clefting, trachoesophageal fistulas requiring a feeding tube, short stature and developmental delays.
Etiology: Unknown. Affects 1 in 10,000 live births
When is the diagnosis made? Diagnosis is usually made in infancy based on a clustering of congenital malformations. In cases of bilateral severe choanal atresia the patients turn blue in early infancy when resting.
What are the systemic or medical conditions associated with the syndrome that are critical concerns for dental work? Several conditions affect the methodology used to treat patients with CHARGE. Children usually have developmental delays affecting management of the patient. The patient in the case report exhibited behavioral difficulties requiring general anesthesia to manage the patient. Choanal atresia may affect airway management, Cardiac septal defects require antibiotic coverage because of the risk of endocarditis.
What factors influence dental care or cause the need for dental treatment? Because of behavior issues, the patients frequently have poor oral hygiene, and associated gingivitis. Rampant decay is a frequent finding. Delayed eruption of the permanent teeth and mandibular retrognatia have also been reported. In the case report, impacted teeth and congenitally missing teeth were noted as well as an odontogenic fibroma of the mandible.
New information? Genetic tests are available which have a limited degree of success in diagnosis because some children have a negative test, yet have CHARGE. Early intervention is a key element to success in encouraging development of the child. In many cases, intelligence is normal, but with vision and hearing loss this can be masked.

Arnold-Chiari Malformation

A Chiari Malformation consists of a displacement of the cerebellar tonsils through the foramen magnum and sometimes causes hydrocephalus as a result of obstruction of cerebrospinal fluid drainage. It can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired coordination, and, in severe cases, paralysis. Incidence ranges between 1:1000 and 1:5000.
There are 4 types of increasing severity with Type III and IV being exceedingly rare.

Type I (most common): Headaches, fatigue, muscle in the head and face, difficulty swallowing, dizziness, nausea, impaired coordination, and, in severe cases, paralysis. Usually adult onset, is treatable, not curable and rarely fatal.
There is a hereditary version which is related to connective tissue dysfunction. Patients with hypermobility or connective tissue deficiency such as Ehlers Danlos and Marfan syndrom may develop a Chiari malformation.

Type II: Type I plus a myelomeningocele which causes paralysis below the spinal defect; 15% of patients die within 2 years of birth.

Type III: Severe neurodevelopmental defects in addition to above symptoms

Type IV: Lack of cerebellar development; Type III and IV patients typically do not live beyond 2-3 years of life.

What we'll see in the chair:
-mild to moderate mental retardation
-dysphagia
-facial pain
-nystagmus
-vertigo
-tachycardia
-headaches secondary to Valsalva maneuvers

Treatment:
Decompression surgery to relieve the buildup of CSF is the most common treatment. Shunts and removal of occipital bone have also been used. There has also been success with transnasal endoscopic surgery.

Summary:
While it is most often adult onset, with a relatively high incidence we will almost certainly see this in our chair at some point. With my minimal exposure, I would compare the behavior and mental status to a patient with Aspergers and/or ADHD. The nystagmus for both of my patients was also very salient.

06/11/2010 A Preventative Approach to Oral Self-mutilation in Lesch-Nyhan Syndrome: A Case Report

Resident: Hencler
Date: 06/11/2010

Article title: A Preventative Approach to Oral Self-mutilation in Lesch-Nyhan Syndrome- A Case Report

Author(s): Jeong et al.
Journal: Pediatric Dentistry-28:4 2006

Major topic: Oral Self-mutilation in Lesch-Nyhan Syndrome
Type of Article: Case Report

Main Purpose:
To present and discuss a Lesch-Nyhan syndrome patient who was treated successfully w/ noninvasive approaches, including a soft mouthguard and psychiatric pharmacologic therapy to prevent further damage of perioral soft tissues.

Background:
Lesch-Nyhan syndrome is a disorder of purine metabolism causing accumulation of sodium urate crystal in the joints, kidneys, CNS, and other tissues. Clinical symptoms include impaired kidney function, joint pain, and a progressive neurological disorder, resulting in retardation of mental and motor development. The most distressing aspect of the syndrome is the compulsive urge for self mutilation.

Case Description:
4 yo male w/ Lesch-Nyhan Syndrome and cerebral palsy receiving 2 mg diazepam daily to relieve biting action with limited success. EOE: Self-mutilated wounds noted on the lower lip and finger caused by primary central incisors. IOE: Revealed caries free intact primary dentition. A maxillary impression taken under sedation and a soft mouthguard was fabricated. Simultaneously, a psychiatric analysis was conducted. Child was biting lower lip since 12 months old whenever frustrated to control anxiety and express aggression. Sertraline and risperidone was prescribed to control the anxiety and self-mutilating behavior. After doubling dosages self-injurious behavior was markedly reduced at day 15. Continued pharmacological therapy at 1 month resulted in 1 attempts to self-mutilate per wk and at 4 months self-mutilating behavior ceased. At recall visits the lower lip was healed, mom was highly satisfied, and the patient appeared to be comfortable and less agitated.

Discussion:
Self-mutilation can result in destruction of the lower lip. EXT of primary and permanent incisors are frequently advocated as a solution, however, canines and perhaps premolars may also be involved. Oral devices to prevent self-mutilation include soft mouthguard, bite block, various types of shields that guard the tongue and lips, and lip bumpers. These methods have an advantage of preserving the teeth, but patient compliance is poor. Also, devices covering the skin may result in dermatitis. In this case, after 6 months the soft mouthguard was ill fitting due to wear and needed replacing. It is important to maintain POEs to reassess integrity of any oral appliance.

Summary of conclusions:
There are no standard methods for the prevention of self-mutilation. Appropriate preventative methods need to be developed on an individual patient basis. As an alternative treatment to EXT, a therapy combining psychiatric, pharmacologic, and dental soft mouth guard treatment may be a ideal option in treating transient and acute episodes of self-injurious behavior involving the lower lip.

Assessment of article:
Interesting case. If the medication can reduce oral self-mutilation, then combination with a soft mouthguard would be a great alternative to EXTs, just as long as the compliance is there. It would be important to preserve the models for appliance fabrication for as long as possible because to get an accurate impression on this patient population would indicate impressing under sedation of some kind. Captain obvious signing off.

Arnold-Chiari Malformation

A Chiari Malformation consists of a displacement of the cerebellar tonsils through the foramen magnum and sometimes causes hydrocephalus as a result of obstruction of cerebrospinal fluid drainage. It can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired coordination, and, in severe cases, paralysis. Incidence ranges between 1:1000 and 1:5000.
There are 4 types of increasing severity with Type III and IV being exceedingly rare.

Type I (most common): Headaches, fatigue, muscle in the head and face, difficulty swallowing, dizziness, nausea, impaired coordination, and, in severe cases, paralysis. Usually adult onset, is treatable, not curable and rarely fatal.
There is a hereditary version which is related to connective tissue dysfunction. Patients with hypermobility or connective tissue deficiency such as Ehlers Danlos and Marfan syndrom may develop a Chiari malformation.

Type II: Type I plus a myelomeningocele which causes paralysis below the spinal defect; 15% of patients die within 2 years of birth.

Type III: Severe neurodevelopmental defects in addition to above symptoms

Type IV: Lack of cerebellar development; Type III and IV patients typically do not live beyond 2-3 years of life.

What we'll see in the chair:
-mild to moderate mental retardation
-dysphagia
-facial pain
-nystagmus
-vertigo
-tachycardia
-headaches secondary to Valsalva maneuvers

Treatment:
Decompression surgery to relieve the buildup of CSF is the most common treatment. Shunts and removal of occipital bone have also been used. There has also been success with transnasal endoscopic surgery.

Summary:
While it is most often adult onset, with a relatively high incidence we will almost certainly see this in our chair at some point. With my minimal exposure, I would compare the behavior and mental status to a patient with Aspergers and/or ADHD. The nystagmus for both of my patients was also very salient.

Taurodontism and Learning Disabilities in Patients With Klinefelter syndrome

Dan Boboia 6/11/10 Lit. Review

Title:
Taurodontism and Learning Disabilities in Patients With Klinefelter syndrome
Author: Schulman et al


Purpose:
Determine the prevalence rates of taurodontism and learning disabilities in a sample of patients with Klinefelter syndrome

Methods:
Questionnaires and dental radiographs of KS patients were obtained and reviewed. Prevalence rates were determined for taurodontism and learning disabilities in the sample population and compared to the general population.

Results:
Taurodontism found in 75% of the participants
Learning disabilities found in 83% of the participants

Conslusions:
84% positive predictive value for KS in a male with taurodontism and learning disability.
This article suggests that dentists should recommend that patient be karyotyped for KS when encountering taurodontism with learning disability