Neurocutaneous syndromes is a term that refers to a group of genetic
neurological (affecting the brain, spine, and peripheral nerves) disorders. The
various kinds of neurocutaneous syndromes can cause tumors to grow inside the
brain, spinal cord, organs, skin, and skeletal bones. The first symptoms most commonly noted in children
are skin lesions, including birthmarks, tumors, and other growths.
The diseases are believed to arise from abnormal development of embryonic
cells (primitive cells that are present in the earliest stages of an embryo's
development) and can involve multiple organs in the body. Although there is no
cure for these conditions, treatments are available that help to manage symptoms
and complications.
What Are the Neurocutaneous Syndromes? There are several
neurocutaneous syndromes, but the most common ones that involve children
include:
- neurofibromatosis, type 1 and 2 (NF1 and NF2)
- Sturge-Weber syndrome
- tuberous sclerosis (TS)
- ataxia-telangiectasia (A-T)
- von Hippel-Lindau disease (VHL)
Not only do symptoms vary widely from condition to condition, but they also
vary widely from child to child. Because neurocutaneous syndromes affect
children in different ways, the full extent of these diseases - even if detected
at birth - may only be revealed as the child grows up. The conditions are always
lifelong, which means that educational, social, and physical problems must be
managed throughout a child's life.
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