Items tagged “phakomatoses”
19 results found
Article
Neurofibromatosis type 1
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder, the most common phakomatosis, and a RASopathy. Additionally, it is also one of the most common inherited CNS disorders, autosomal dominant disorders, and inherited tumor syndromes....
Article
Neurofibromatosis type 2
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumors. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas. Instead, patients with this disease have
intracranial schwannom...
Case
Subependymal giant cell astrocytoma - tuberous sclerosis
Published
26 Mar 2009
71% complete
CT
Case
Subependymal giant cell astrocytoma - tuberous sclerosis
Published
25 Jul 2009
77% complete
CT
Case
Tuberous sclerosis
Published
30 Sep 2015
80% complete
CT
Article
Sturge-Weber syndrome
Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis or encephalofacial angiomatosis, is a phakomatosis characterized by facial port-wine birthmark (capillary malformation) and pial angiomas.
It is part of a wide spectrum of possible phenotypes included in the cerebrofacial ar...
Case
Neurofibromatosis type 1
Published
20 Mar 2010
83% complete
MRI
Case
Renal angiomyolipoma (pathology)
Published
13 Dec 2011
91% complete
Pathology
Case
Tuberous sclerosis
Published
25 Feb 2012
98% complete
MRI
CT
Ultrasound
Case
Retinal astrocytic hamartoma on background tuberous sclerosis
Published
23 Feb 2013
68% complete
CT
Case
Neurofibromatosis type 1
Published
14 Apr 2013
62% complete
MRI
Article
Neurofibromatosis type 1 (cutaneous manifestations)
Cutaneous manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are the heralding features of this multisystem neurocutaneous disorder, which is the most common phakomatosis.
Nowadays genetic testing permits the laboratory diagnosis of NF1 in as many as 95%, although ...
Article
Hypomelanosis of Ito
Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems.
Epidemiology
The prevalence is unknown, being reported as between 1 per 8000 patients in a general pediatric hospital ...
Article
Gomez-Lopez-Hernandez syndrome
Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterized by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia.
Epidemiology
There have only been 35 reported c...
Case
Tuberous sclerosis
Published
31 Mar 2016
98% complete
MRI
Article
Neurofibromatosis type 1 (mnemonic)
Clinical diagnosis requires the presence of at least two criteria to confirm the presence of neurofibromatosis type 1 (NF1) 1.
These diagnostic criteria can be remembered with the mnemonic:
CAFE SPOT
Mnemonic
C: café-au-lait spots (greater than six seen during one year)
A: axillary or ingui...
Case
Tuberous sclerosis
Published
29 Apr 2019
74% complete
MRI
CT
Case
Coexisting meningioma and pituitary macroadenoma
Published
21 Apr 2022
78% complete
CT
MRI
Case
Sturge-Weber syndrome
Published
18 Sep 2022
95% complete
MRI
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