suspected Trichorhinophalangeal Syndrome Type I

Trichorhinophalangeal Syndrome (TRPS) 

Trichorhinophalangeal Syndrome (TRPS) is a rare genetic condition characterized by distinct craniofacial, hair, and skeletal abnormalities. The syndrome is divided into three types—TRPS I, TRPS II, and TRPS III—each with varying degrees of severity and symptoms (Maas et al., 2017).

TRPS I is caused by mutations in the TRPS1 gene located on chromosome 8q24.12. This gene encodes a transcription factor that regulates chondrocyte differentiation and apoptosis, crucial processes for normal bone and cartilage development (Maas et al., 2017).

The condition follows an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene can cause the disorder (Maas et al., 2017).

Craniofacial Characteristics:

 Individuals with TRPS I often present with distinctive facial features, including a pear-shaped nose, a long philtrum, a thin upper lip, and a prominent forehead. These features give the face a characteristic appearance (Maas et al., 2017).

Hair Abnormalities:

 Hair is typically sparse, thin, and slow-growing, particularly on the scalp (Maas et al., 2017).

Skeletal Abnormalities:

Skeletal issues are prominent in TRPS I, including cone-shaped epiphyses, which can lead to short fingers (brachydactyly) and joint deformities. Hip abnormalities, such as hip dysplasia or Perthes-like disease, are also common, potentially leading to mobility issues (Maas et al., 2017).

Cardiac abnormalities:

Vary from minor anomalies (persistent ductus arteriosus, persistent foramen ovale, bicuspid aortic valves, mitral valve regurgitation) to significant problems (aortic stenosis, anomalous venous return). Cardiac rhythm disturbances are rare (Maas et al., 2017)

Growth and Development:

Individuals may experience short stature and a range of skeletal deformities. Unlike TRPS II, TRPS I does not typically include intellectual disability or other systemic anomalies (Maas et al., 2017).

Dental Anomalies:

A wide variety of dental abnormalities have been reported in the literature for individuals with TRPS, including Mandibular Hypoplasia, Obtuse Gonial Angle, Malocclusion, Submucous Cleft Palate, Delayed Eruption, Impacted teeth, Hypodontia, Hyperdontia, hyperplastic gingiva, continuous development of supernumerary teeth, and taurodontism in the lower and upper molars. Kunotai et al. reported the extraction of 17 supernumerary teeth. Premature eruption of permanent central incisors and first permanent molars have been observed to erupt by the age of 4 (Kunotai et al., 2017, Kunimori et al., 2006, Murdoch, 1969, Noltorp et al., 1986, Morioka et al., 1999, Jorgenson et al., 1983, Karacay et al., 2007, Kantaputra et al., 2008, Roberts et al., 2014).

TRPS is often considered in the differential diagnosis of disorders involving hair, nose, and limb abnormalities.

•Ellis-van Creveld syndrome

•Hereditary multiple osteochondromas

•Acromicric dysplasia

•Oculodentodigital syndrome

•Myoectodermal gonadal dysgenesis syndrome

•Cartilage-hair hypoplasia – anauxetic dysplasia spectrum disorders.

No consensus diagnostic criteria for TRPS have been published (Maas et al., 2017).

The clinical phenotype of TRPS can be subtle, and the syndrome often remains undiagnosed. A comprehensive clinical examination and an exhaustive family history are crucial for the correct diagnosis (Roberts et al., 2014).

Genetic testing can confirm the presence of mutations in the TRPS1 gene, providing a definitive diagnosis (Maas et al., 2017).

•Treatment of manifestations:

•Supportive Care: Advice on hair care and use of wigs.

•Growth Therapy: Consider growth hormone therapy for short stature with GH deficiency.

•Therapies: Occupational therapy for motor skills, physiotherapy, and regular exercise for joint pain and mobility.

•Pain Management: Use analgesics like NSAIDs.

•Orthopedic Interventions: Prosthetic hip implantation for severe hip dysplasia.

•Nutritional Support: Adequate calcium and vitamin D intake, sun exposure.

•Bone Health: Modify activities to prevent fractures; consider bisphosphonates for osteopenia.

•Cardiac Care: Treat cardiac anomalies as advised by a cardiologist.

•Psychosocial Support: Peer support and psychological counselling if needed.

•Developmental Assessment: Conduct annually throughout childhood (Maas et al., 2017).

1. Regularly reinforce oral hygiene instruction.

2. Conservative management of general oral health and caries.

3. Extraction of supernumerary teeth.

4. If necessary, dental malalignment correction and any problematic impacted extraction (Roberts et al., 2014).

The distinct craniofacial skeletal and oral soft tissue abnormalities associated with TRPS can complicate dental care and general anaesthetic procedures. A hypoplastic mandible and malocclusion make maintaining an airway during general anaesthesia challenging. Additionally, features like underdeveloped alae nasi, an aplastic epiglottis, and submucous clefts in TRPS can affect the administration of anaesthesia (Roberts et al., 2014).

Genetic and Familial Background:

TRPS I is inherited in an autosomal dominant manner, which aligns with CJ's family history of skeletal abnormalities.

Skeletal Abnormalities:

CJ's history of fractures, hyperextensibility, short thumbs, and toe abnormalities are consistent with the skeletal fragility and joint issues seen in TRPS I.

Facial Features:

CJ's large ears, broad nasal tip, thin lips, and sparse eyebrows match the distinctive facial features described in TRPS I.

Hair Characteristics:

CJ's thin, coarse, reddish-blonde hair resembles the sparse, slow-growing hair typical of TRPS I.

Dental Anomalies:

CJ's delayed dental development, unerupted teeth, and abnormal root formation align with the dental anomalies associated with TRPS I.

General Growth and Development:

Although CJ's height is average, his history of fractures aligns with the bone fragility often seen in TRPS I.

Additional Considerations:

Noise Sensitivity and Social Behavior: CJ's sensitivity to noise and social behaviour is not directly associated with TRPS I. However, the presentation of TRPS varies widely in the literature, and no consensus on diagnostic criteria for TRPS has been established.

History of the chief complaint:

CJ has several rotten teeth, but he doesn’t feel any pain. He was referred here after a visit to a private clinic where he went for a routine check-up. At the private clinic, the dentist informed CJ and his mother that some of CJ’s lower back teeth were missing. 

Prenatal, Natal, Postnatal history:

CJ was adopted at five months of age. His biological parents are half-siblings. The biological mother has no known medical conditions but did abuse drugs during her pregnancy. The biological father reportedly had a 'bone problem' characterized by unusual toes and multiple fractures. CJ was born full-term via natural birth with no reported complications or injuries. He was bottle-fed with formula, water, and fresh juice until age three.

Medical history:

CJ has experienced three fractures: his elbow at the age of 2 (from a fall off a chair), his clavicle at four years, and a bone in his foot at six years. All of these incidents were low-impact. Recently, he dislocated his hip while dancing and managed to 'pop' it back into place by himself, though a medical practitioner did not follow this up. CJ is allergic to bees and is currently taking a Vitamin D supplement. His hearing and vision have been assessed as normal. His mother reports no signs of cognitive impairment or learning difficulties.

Dental history and oral hygiene practice:

Technically, this is CJ's first dental visit, as no work was done during his visit to the private clinic that referred him to us. He brushes his teeth once a day in the morning by himself, under his mother’s supervision, using adult toothpaste. He does not floss.

CJ is a lovely, friendly, and very talkative boy. He is highly active and passionate about dance, having even performed internationally with a team. Currently, he is home-schooled and is doing well academically. CJ is sensitive to noise and used to wear earphones in loud or stressful environments.

CJ has a symmetrical face with large, prominent ears featuring a characteristic protrusion. His nose has a broad nasal tip with underdeveloped alae. The lips are thin with a flat, long philtrum. His eyebrows are normal medially but sparse distally. No lymph node involvement was detected, and TMJ is functioning normally. His hair is reddish blonde, thin, and slightly coarse in texture. There is apparent hyperextensibility at the elbow and shoulder joints. His fingers show short thumbs and relatively short palms. His feet display toe length abnormalities, with a very short big toe and a long second toe. No bony protuberances were noted.

Morphological examination of the face:

CJ exhibits a convex facial profile with a slightly prognathic maxilla and mandible and a mildly pronounced chin fold. The lips are competent.

Molar classification: 

Not applicable; missing 36, 75, 85, and 46.

Midline:

•Maxillary midlines: 2mm to the left.

•Mandibular midlines: Coincide with the midsagittal plane at rest and shift 3 mm to the right at occlusion (occlusal interference)

Overjet:  reversed

Overbite: 4mm

Crossbite: 53, 52, 11, 21, 63, 64

No open bite

Buccal canine bulges: palpable

No habit.

CJ is in the First Transitional Stage. No abnormalities were found in the tongue, frenum, or mucosa.

16o, 55o, 54o, 54o, 65o, 26o.

Despite our attempts, we were unable to obtain intraoral views as CJ became increasingly agitated and nervous and eventually started crying, causing us to stop and reassure him. During the clinical examination of the carious teeth, distinct cavities with visible dentin were observed upon gentle excavation. The dentin felt firm on gentle probing, which indicates inactive carious progression. The teeth in question were not tender to percussion. Given CJ's agitation during our attempt to capture intraoral views, we refrained from performing a pulp sensibility test to avoid losing his trust and cooperation. However, CJ reported no pain when drinking cold water or eating.

CJ  was most likely asymptomatic due to the dynamic reparative response of the dentine pulp complex, thus blocking the early stage of bacterial invasion through the dentinal tubules towards the pulp.

Reactionary tertiary dentinogenesis refers to the formation of tertiary dentin as a response to mild stimuli, such as shallow caries or minor restorative procedures. This process involves the activation of existing odontoblasts, the cells responsible for dentin formation. The dentin produced during reactionary dentinogenesis generally shares a similar composition and structure with primary and secondary dentin, maintaining the tubular nature and continuity of dentinal tubules. The primary function of this process is to protect the dental pulp from mild injuries by increasing the thickness of the dentin barrier, thereby enhancing the tooth's defence mechanism (Smith and Lesot, 2001).

64om: based on the clinical evaluation, there is a high chance that the pulp is involved or it would be involved during the caries excavation process. In primary molars, destruction of the marginal ridge indicates a high probability of pulp involvement (Mitchell and Mitchell, 2014).

 52, 53, 63, 73, 74, 83, 84 incisor attrition

32 lingually placed

31, 41, sound

 42 partially erupted

62, 37, 36, 75, 74, 73, 83, 84, 85, 46, 47 unerupted.

Dental Age: approximately 7 years.

Leeway Space:

·        First quadrant: Uncompromised.

·        second quadrants: compromised.

·        Third and fourth quadrants: Teeth 36, 75, 85 &46 unerupted.

Delayed Eruption:

·        Deciduous and permanent teeth 36, 75, 74, 73, 83, 84, 85, and 46.

·        Lack of posterior occlusion.

·        Root dilaceration in teeth 75 and 85.

Agenesis: Teeth 34, 35, 44, 45.

Mandibular Bone: Very thin.

Tooth Discrepancy: 13 appears wider than 23, suggesting palatal impaction; confirm with an upper occlusal view (vertical parallax technique).

CJ is a curious child who asks many questions and wants to know everything and anything we will do beforehand. His behaviour management plan will prioritize ensuring he feels informed and in control during his dental visits.

CJ has episodes of crying. He began to cry when we tried to take intra-oral radiographs, but with some reassurance, he agreed to continue the session. A similar reaction occurred during the examination. His mother explained that this is his typical behaviour when he feels pressured. However, if we pause, remain calm as if he isn't crying, encourage him, and give him a few minutes to compose himself, he will usually continue.

According to Frankl's behaviour rating scale, CJ's attitude was negative, reluctant to accept treatment, and uncooperative, with some evidence of a negative attitude, though not pronounced, as he appeared sullen and withdrawn.

To manage CJ's behaviour, we will use the Ask-Tell-Ask technique, which involves checking in with him about his understanding and comfort before, during, and after explaining the procedures. This approach will help assess his anxiety, educate him about the treatment, and ensure he is comfortable before proceeding. 

We will also implement self-disclosing assertiveness techniques to clearly communicate what is required from CJ to ensure his cooperation. Positive reinforcement will be used to encourage his cooperative behaviours.

For distraction, we will use the TV, as CJ enjoys watching SpongeBob, and keep him engaged by talking to him throughout the procedure. This will help divert his attention from any discomfort and prevent negative or avoidance behaviours.

We will also utilize the enhancing control technique. CJ has been informed that if he feels uncomfortable or wants a break, he should raise his left arm, and we will immediately respond during the procedure.

This method will help CJ feel more in control, reduce his anxiety, and keep the crying spells at bay, leading to a more positive experience during his dental visits.

We will closely monitor CJ's responses throughout the treatment and adjust our approach as needed to ensure his comfort and cooperation.

As there is no immediate emergency, we will start with the least invasive procedures to build his trust and cooperation before progressing to more complex treatments.

• Preventive Phase:

1/Oral hygiene education.

2/Fluoride application: 4 times per year as CJ is a high caries risk child.

3/Diet analysis: A 3-day diary.

• Restorative treatment: 16o, 55o, 54o, 65o, and 26o ITR. 64om possible pulp therapy

• Craniofacial and Dental Genetics: consultation

• Multidisciplinary consultation: as soon as Craniofacial and Dental Genetics confirm the diagnosis.

Based on my assessment, CJ is currently unable to tolerate the full procedure of caries removal and adhesive filling placement due to his limited cooperation and sensitivity to noise, which restricts the use of the handpiece. Therefore, we have decided to use Interim Therapeutic Restoration (ITR) to manage the progression of the caries while we gradually build his trust and cooperation. Additionally, we have decided to delay permanent long-term treatment until we consult with the multidisciplinary team and receive diagnostic confirmation from Craniofacial and Dental Genetics, as the full extent of CJ's condition is not yet known.

This approach allows us to address his immediate needs while planning for a more permanent, long-term treatment strategy once we have a complete diagnosis.

ITR and ART. These procedures have similar techniques but different therapeutic goals. ITR may be used in very young patients, uncooperative patients, or patients with special health care needs for whom traditional cavity preparation or placement of traditional dental restorations is not feasible or needs to be postponed. Additionally, ITR may be used for caries control in children with multiple open caries lesions prior to definitive restoration of the teeth (AAPD, 2009, APD, 2019).

First Visit

1.    Genetic Consultation.

2.    Examination (incomplete).

3.    Oral Hygiene Instruction and Demonstration.

4.    Fluoride varnish application.

The session began by introducing CJ to the dental team and giving him a tour of the clinic to help ease his agitation. We then explained the plan for the session to CJ and his parents. The genetic consultation followed, along with clinical photographs.

A brief examination was conducted, but we were unable to obtain intraoral views as CJ became uncooperative and started to cry during the first bitewing view attempt. After reassuring him, he agreed to continue with the session. We provided a brief oral hygiene instruction and demonstration. However, due to the lengthy evaluation by the genetic team, CJ expressed that he was tired and wanted to stop. Despite this, he cooperated with the application of fluoride varnish 5% sodium fluoride varnish (2.26% fluoride, 22,600 ppm F).

Professionally applied topical fluoride treatments, such as 5% sodium fluoride varnish (2.26% fluoride, 22,600 ppm F) and acidulated phosphate fluoride (1.23% fluoride, 12,300 ppm F), are effective in reducing the prevalence of dental caries (AAPD, 2023).

To reinforce his positive behaviour, particularly his willingness to proceed with the fluoride application despite being tired, CJ was rewarded with a balloon.

• Full Examination and Treatment Plan:

The treatment plan was discussed and agreed upon by both CJ and his mother.

 16o, 55o, 54o:

CJ agreed to the use of the handpiece for 10 seconds on each tooth. The handpiece was used briefly to open the cavities, improving visibility and access to the decayed areas. However, he started crying, so we stopped, reassured him, and reiterated the preoperative instruction, raising his left hand if he felt uncomfortable or wanted a break. We gave him a ten-minute break, during which he showed us some of his dance moves.

After the break, caries was then manually removed using an excavator. All three cavities were filled with RMGIC Vitremer.

•        The survival of single-surface ART restorations in primary teeth using resin-modified glass ionomers showed a success rate of 72% after 25-48 months (Faccin et al., 2009).

•        The success rate of resin-modified glass ionomers used for restoring single- and multiple ART-cleaned cavities in permanent teeth appears to be higher than for comparable high-viscosity glass ionomers after one year (Cefaly et al., 2007) and two years (Ercan et al., 2009, Molina et al., 2009).

• Oral Hygiene Instruction and Demonstration:

Active brushing and flossing techniques were demonstrated using a disclosing agent. CJ’s mother was advised to assist CJ with brushing twice daily and flossing, as he was not yet able to perform these tasks effectively on his own.

• CJ’s mother was impressed with the progress made during the session, and CJ promised to follow through with the oral hygiene instructions. At the end of the session, CJ was rewarded with two balloons.

CJ appeared more relaxed and comfortable, having warmed up to the dental team. 

He spent ten minutes telling us how he was compliant and followed the instructions; despite that, his gum bled when his mom flossed his teeth, they continued to brush twice a day and floss at night.

The plan for the session was discussed and agreed upon.

26o, 65o: same as previous visit.

64om:

Given the high probability of pulp involvement, the cavity was filled with GIC to prevent food impaction and halt caries' progression. In primary molars, the destruction of the marginal ridge indicates a high probability of pulpal involvement (Rushworth and Kanatas, 2020).

 Reiteration of Oral Hygiene Instruction:

The importance of maintaining good oral hygiene was reiterated to both CJ and his mother.

At the end of the session, CJ was rewarded with a balloon. CJ’s mother was advised to monitor tooth 64 closely for any signs of pathology, such as gum boils, swelling, or pain, by lifting the lip to check regularly.

CJ’s mother was informed that the first part of the treatment plan had been completed. The multidisciplinary team will develop the long-term treatment plan after the genetic diagnosis is confirmed. Until then, regular follow-up visits every three months are essential, as CJ is at high risk of developing dental caries.

Looking back at our experience managing CJ, I think we managed his behaviour well. When I first met him, I doubted our ability to manage his behaviour effectively. However, involving his parents and communicating with them was crucial, as CJ's mom provided valuable insights on how to handle his behaviour.

However, upon reflection, I recognize that the clinical aspect could have been handled more effectively. Using RMGIC to fill all of CJ's teeth, both primary and permanent, was not the most suitable choice. RMGIC is not recommended for Class I cavities in permanent teeth. There is insufficient evidence to support the use of RMGIC as long-term restorative materials in permanent teeth (AAPD, 2020), and they are reported to be more prone to abrasive wear (Lobauer, 2010). Although we were using it as an interim therapeutic restoration, considering CJ's fear of noise, which restricts the use of a handpiece, the potential difficulty in replacing the fillings on his 16 and 26 teeth, should they fail, was overlooked.

At the time, I thought CJ wouldn't be able to tolerate the acid etching process. Considering how much his behaviour has improved, it might have been worth trying to fill these teeth with composite and seal the remaining occlusal surface with a fissure sealant. Self-etch adhesives could have been an option to avoid the etch and rinse technique, although they were not available in the clinic then. To be honest, I didn't consider it. Another reason for the poor choice was that I hadn't decided on the specific materials in advance; I only planned the procedure.

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