The phakomatoses

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The phakomatoses

Last updated on Monday, August 18 2008 by gliageek

Neurofibromatosis, type 1

Related images:

The phakomatoses
The phakomatoses are a diverse set of disorders which by definition affect the skin and nervous system. This is an overview of the key features of these diseases.

Meningioangiomatosis, H&E stain, 40 X. magnification
Meningioangiomatosis is characterized by perivascular proliferation of monomorphic spindle cells. In patients with neurofibromatosis type II, they may be multiple, but also tend to be asymptomatic.

Cerebral Tuber, Lateral
Patients with tuberous sclerosis usually demonstrate one or more regions of cerebral overgrowth resembling tubers (root vegetables).

Cortical Tuber, low-power hematoxylin and eosin stained section
Cortical tubers are composed of enlarged, dysmorphic glioneuronal cells, many of which demonstrate neuronal nuclear morphology but astrocytic cytoplasmic features (balloon cells).

Neurocutaneous Melanosis Ventral
Several hyperpigmented macules are seen on the surface of this infant's brain

Neurocutaneous Melanosis Ventral Close Up
Hyperpigmented macules overlying olfactory nerve and entorhinal cortex.

Cortical Tuber, medium-power hematoxylin and eosin stained section
Two populations of abnormal cells are seen: Dysmorphic neurons and balloon cells.

Tuberous Sclerosis, coronal section demonstrating numerous subependymal nodules and a subependymal giant cell tumor in the septum pellucidum
Subependymal nodules may undergo transformation to an enlarging, though WHO grade 1, neoplasm.

Sturge Weber disease, H&E stain, low-power
Leptomeningeal angiomatosis accompanied by adjacent/underlying cortical calcification.

Port Wine nevus
An illustration of a port wine nevus as seen in Sturge-Weber syndrome (SWS)

Related review questions:

Neurocutaneous 01
Which of the following neurocutaneous syndromes is most closely associated with this neoplasm

Neurocutaneous 02
Which of the following neurocutaneous syndromes is most closely associated with this neoplasm

Neurocutaneous Syndromes 07
The parents of the Infant Marguerite Therese (shown in the image above) have brought her to your clinic because she suffers from frequent seizures, which affect only the right side of her body. They are wondering...

Neurocutaneous Syndromes 01
Which of the following is characteristically associated with neurofibromatosis type 1

Neurocutaneous 03
All of the following may be seen in association with the histopathologic features pictures here, EXCEPT:

Review of the relevant anatomy

The phakomatoses