BMJ case reports · 2026
Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Jogigowda Sanjay Chikkarasinakere, Patil Karthikeya, Basavarajappa Ritu, Christopher Varusha Sharon
Аннотация
Sjögren-Larsson syndrome (SLS) constitutes a rare genetic disorder manifesting as a complex neurocutaneous condition characterised by congenital ichthyosis, progressive neurological impairment and intellectual disability. This case report presents an early childhood female patient exhibiting the classic triad of symptoms, along with significant oral complications, including severe dental caries, enamel demineralisation and gingivitis. Molecular genetic testing confirmed a homozygous pathogenic variant in the ALDH3A2 (Aldehyde Dehydrogenase 3 family member 2) gene, establishing the diagnosis. The patient's management encompassed a comprehensive multidisciplinary approach, integrating dental interventions under general anaesthesia, systemic therapies for spasticity and cutaneous manifestations, and regular follow-up care. This case highlights the critical importance of recognising oral manifestations in SLS and emphasises the need for integrated oral healthcare within the broader therapeutic framework for affected individuals.