Tricho-rhino-phalangeal Syndrome (TRPS) is a rare inherited dysplasia affecting hair, nasal structure and fingers. A literature review indicated that since first described, three types of manifestations have been identified. A Table summarising the oral manifestations demonstrates the variety of presentations. A South African male child presented with the syndrome and was found to show premature eruption of permanent teeth, a finding that has not been previously reported. His oro-facial manifestations also included malaligned and unerupted crowded teeth, bulbosity of the nasal tip and an elongated philtrum and evidence of mild intellectual impairment. A protocol has been developed to guide the future management of these cases.
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Article Synopsis
- Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome with unique facial, ectodermal, and skeletal traits, categorized into different types based on genetic causes.
- A study at Aarhus University Hospital analyzed 15 patients with TRPS type I, highlighting a median age of diagnosis at 15 years and a follow-up period of 10 years, revealing a prevalence of 0.5 in 100,000 individuals.
- Common symptoms included fine hair, distinctive facial features, joint complaints, and skeletal anomalies, with no clear link between specific genetic mutations and the clinical symptoms, underscoring the importance of multidisciplinary care for effective diagnosis and management.
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