To review the clinical and imaging features of the most important phakomatoses. 2.
To illustrate the imaging findings of some of these neurocutaneous syndromes.
The phakomatoses are congenital disorders manifesting with central nervous system and cutaneous abnormalities.
The structures predominantly affected are those of ectodermal origin,
including the skin,
The four most common phakomatoses are neurofibromatosis (types 1 and 2),
and von Hippel-Lindau disease.
Imaging of the brain and spine in these disorders plays an important role in
as well as determining the extent of...
Findings and procedure details
INTRODUCTION The term “phakomatoses” (after the word “ phakos” ,
meaning birthmark) was formulated by the ophthalmologist Van der Hoeve when he described the retinal hamartomas. Phakomatoses or neurocutaneous syndromes are a heterogeneous group of congenital disorders with variable degree of penetration,
primarily involving structures derived from the embryological neuroectoderm. NEUROFIBROMATOSIS Neurofibromatosis Type I Neurofibromatosis type 1 (NF1) also known as Von Recklinghausen’s...
Imaging plays a major role in evaluation of patients suspected of having these disorders.
In addition to making or confirming the diagnosis imaging studies are essential for preoperative planning whenever surgery is contemplated,
and are also used to follow patients for progression and complications of their disease as well as screening the first-degree relatives of an identified proband.
Quaghebem G et al.
Intra-Cranial Manifestations of the Neurocutaneous Syndromes.
Clinical Radiology 2000; 55: 82-98. Fortman B F,
Kuszyk B S,
Urban B A et al.
Neurofibromatosis Type 1: A Diagnostic Mimicker at CT.
RadioGraphics 2001; 21:601–612. Gosein M,
Pang E et al.
Abdominal Imaging Findings in Neurocutaneous Syndromes: Looking Below the Diaphragm.
AJR 2017; 209: 1-12. Hekmatnia A,
Marashi M J.
Imaging Review of Neurofibromatosis: Helpful Aspects...