Cathepsin C (CTSC), a lysosomal cysteine protease, acts as a primary activator of several critical immune enzymes. Mutations in CTSC can cause a variety of conditions, primarily Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS), both rare autosomal recessive palmoplantar keratoderma (PPK) diseases.
We report the case of a 24-year-old female patient. Her past medical history revealed an undiagnosed condition associated with symptoms of thick, dry, and cracked skin. Additionally, she is of Myanmar heritage and has shared a family history of similar symptoms. The patient was referred to a dermatologist for further evaluation and genetic sequencing to confirm the diagnosis. Whole-exome sequencing (WES) revealed two heterozygous compound variants in the CTSC gene.
The report highlighted the clinical findings relevant to CTSC’s genetic standpoint regarding the mutational indications of PLS and HMS. These diseases are allelic and share clinical features of PPK, including early-onset periodontal deterioration and early tooth loss. These diseases are lifelong and management is usually palliative and quality-focused.
The WES confirmed a likely Haim-Munk syndrome diagnosis from compound heterozygous CTSC variants. This aligns with severe PPK and early tooth loss, underscoring the vital need for genetic counseling and further family testing. For dental practitioners, early identification of patients with suspected Papillon-Lefèvre or Haim-Munk syndrome is essential to enable timely genetic referral, appropriate prosthetic rehabilitation, and multidisciplinary management.
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The burden of autism spectrum disorder (ASD) in Saudi Arabia remains unclear with a dearth of literature, which focus on risk factors, prevalence, or interventions. This study is a review of the published literature related to dental experiences of children with ASD in Saudi Arabia. Twenty-two studies were included in this review, based on the predefined inclusion criteria which examined dental disease prevalence in children with ASD, identified the risk factors and the potential barriers to oral care. Results uncovered a lack of systematically published studies from Saudi Arabia which might have led to the limited development of effective oral health policies in the Kingdom. Identification of research gaps and potential intervention policies are needed to improve the oral health and quality of life of children with ASD in Saudi Arabia.
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No one can sign for dental treatment on behalf of adults. This should be emphasized with special care people who lack mental capacity. A criminal offence concerning ignorance or ill treatment of people who lack mental capacity could be the result (British Society for Disability and Oral Health, 2000). Adult special care people who have a mental health illness, stroke, confusion, dementia, Parkinson’s disease or severe learning disability may lack the mental capacity to make their own decisions about their dental care and treatment. Therefore, it was indeed required to use a tool/measure to assess their mental capacity prior to taking a decision. Consequently, a valid consent form should be obtained and documented. An informed consent should aim to provide enough information about potential risk factors and benefits of the planned dental treatment, ensure that the patient understands the information given, ensure that the decision is made by the patient, and include an obligation to respect the patient’s decision (Dougall and Fiske, 2008). The Mental Capacity Act 2005 was designed to assist patients who may lack mental capacity (adults > 16 years) and to discourage anyone responsible for their care such as family members, carers or guardians from taking any decision on behalf of the patient (Mental Capacity Act, 2005). This act works by assessing four crucial criteria based on five principles.
Five statutory principles have been recognised and should be given consideration before assessing a patient’s mental capacity: (1) Presumption of capacity, unless it is established that the patient lacks capacity; (2) provision of support to make a decision; (3) the right to make unwise decisions; (4) the requirement to act in the person’s best interest, and lastly; (5) consideration to make the least restrictive intervention.
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The use of the internet has surged significantly over the years. Patients and caregivers of patients with autism spectrum disorder (ASD) might consult the internet for oral health-related information. Hence, this study aimed to assess the quality and readability of online information available in the English language regarding oral health in ASD.
Online search using Google.com was conducted using the terms “Autism and dental care,” “Autism and oral health,” and “Autism and dentistry”. The first 100 websites for each term were screened. Quality of information was assessed using the Patient Education Materials Assessment Tool for printed material (PEMAT-P) and the Journal of American Medical Association (JAMA) benchmarks. A PEMAT score higher than 70% is considered acceptable for readability and actionability. The JAMA benchmarks are authorship, attribution, disclosure, and currency. Readability was evaluated using the Flesch reading ease score and Simple Measure of Gobbledygook (SMOG) readability formula.
Out of the 300 screened websites, 66 were eventually included. The mean PEMAT understandability and actionability scores were 77.13%, and 42.12%, respectively. Only 12.1% of the websites displayed all four JAMA benchmarks. The mean Flesch score was 10th–12th grade level, and the mean SMOG score was 10th grade level.
While the understandability of the information was acceptable, the readability and actionability were too challenging for lay people. Health care professionals and organizations involved in patient education should place more efforts in promoting the quality of online information targeting patients with ASD.
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Special Care Dentistry (SCD) is an unrecognised speciality in the Kingdom of Saudi Arabia (KSA) and it is not currently taught as a major part of undergraduate or postgraduate dental curricular. The number of people with special needs is expected to increase based on the presence of many risk factors. For instance, the government is facing a rising burden of road traffic injuries as a result of rapid changes in behaviours. Therefore, more survivors are expected who might live using wheelchairs or with permanent physical impairments. Additionally, the elderly population of Saudi Arabia is expected to grow from 1 million in 2000 to 7.7 million in 2050. Improvements in paediatric health care in Saudi Arabia are expected to increase the number of people living with chronic or debilitating medical conditions. Thereby, dental care providers must anticipate patients with chronic medical conditions and/or wheelchair users in their daily practice. Implementation of SCD in the undergraduate and postgraduate dental programmes in Saudi dental universities will help oral health care providers to manage these patients and involve them in the health care pathway.
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