Phakomatoses: A pictorial review

Phakomatoses or Neurocutaneous syndromes are a heterogeneous group of disorders and have variable inheritance pattern. Currently, more than 30 entities are included in this group. These disorders primarily affect the central nervous system; however, skin, viscera, and other connective tissues can al...

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Detalles Bibliográficos
Autores principales: Swarup, M Sarthak, Gupta, Swati, Singh, Sapna, Prakash, Anjali, Mehndiratta, Anurag, Garg, Anju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Miscellaneous
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546286/
https://www.ncbi.nlm.nih.gov/pubmed/33100689
http://dx.doi.org/10.4103/ijri.IJRI_497_19
Descripción
Sumario:Phakomatoses or Neurocutaneous syndromes are a heterogeneous group of disorders and have variable inheritance pattern. Currently, more than 30 entities are included in this group. These disorders primarily affect the central nervous system; however, skin, viscera, and other connective tissues can also be involved with variable clinical presentation. We will describe and illustrate the various radiological findings of the common entities through the iconography of the cases presented to our department.

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