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Review
. 2024 Mar 13;13(6):1648.
doi: 10.3390/jcm13061648.

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Ivelina Kioutchoukova  1 , Devon Foster  2 , Rajvi Thakkar  1 , Christopher Ciesla  2 , Jake Salvatore Cabassa  2 , Jacob Strouse  2 , Hayley Kurz  1 , Brandon Lucke-Wold  3
Affiliations
Review

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Ivelina Kioutchoukova et al. J Clin Med. .

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 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.

Keywords: cutaneous; genetic advances; neurocutaneous disorders; neurologic; phakomatoses; precision medicine.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Pathogenesis of neurofibromatosis 1.
Figure 2
Figure 2
Multisystem manifestations of TSC.
Figure 3
Figure 3
How the vascular macules manifest in Sturge–Weber syndrome.
Figure 4
Figure 4
Types of Von Hippel-Lindau disease.
Figure 5
Figure 5
Pathogenesis of ataxia–telangiectasia.
Figure 6
Figure 6
Types of hereditary hemorrhagic telangiectasias.
See this image and copyright information in PMC

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