Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Version 1 : Received: 17 January 2024 / Approved: 17 January 2024 / Online: 17 January 2024 (09:45:49 CET)

A peer-reviewed article of this Preprint also exists.

Kioutchoukova, I.; Foster, D.; Thakkar, R.; Ciesla, C.; Cabassa, J.S.; Strouse, J.; Kurz, H.; Lucke-Wold, B. Neurocutaneous Diseases: Diagnosis, Management, and Treatment. J. Clin. Med. 2024, 13, 1648. Kioutchoukova, I.; Foster, D.; Thakkar, R.; Ciesla, C.; Cabassa, J.S.; Strouse, J.; Kurz, H.; Lucke-Wold, B. Neurocutaneous Diseases: Diagnosis, Management, and Treatment. J. Clin. Med. 2024, 13, 1648.

Abstract

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 plays a substantial role in addressing 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.

Keywords

neurocutaneous disorders; cutaneous; neurologic; phakomatoses; genetic advances; precision medicine

Subject

Medicine and Pharmacology, Neuroscience and Neurology

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