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Journal of clinical medicine · 2024

Neurocutaneous Diseases: Diagnosis, Management, and Treatment.

СтатьяОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Kioutchoukova Ivelina, Foster Devon, Thakkar Rajvi, Ciesla Christopher, Cabassa Jake Salvatore, Strouse Jacob, Kurz Hayley, Lucke-Wold Brandon

Аннотация

Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion of the genetic and clinical involvement of neurocutaneous disorders, and examines clinical management and treatment options. With the current advances in genetics, the role of precision medicine and targeted therapy play a substantial role in addressing the management of these conditions. The interconnectedness between therapeutic options highlights the importance of precision medicine in treating each disorder's unique molecular pathway. This review provides an extensive synthesis of ongoing and current therapeutics in the management of such clinically unique and challenging conditions.