| Neurocutaneous SyndromesDefinition
- A heterogeneous group of conditions in which abnormalities of skin and nervous system predominate
- Prototypical neurocutaneous conditions
- Neurofibromatosis
- Tuberous sclerosis
- Von Hippel-Lindau disease
- Several other genetic or developmental anomaly syndromes share the phenotypic association of cutaneous and neurologic abnormalities.
- Sturge-Weber syndrome
- Ataxia-telangiectasia
- Incontinentia pigmenti
- Hypomelanosis of Ito
- Epidermal nevus syndromes
- Neurofibromatosis (NF) is divided into 7 types.
- NF-1 and NF-2 are different conditions with only minimal overlap.
- Both are autosomal-dominant disorders with high penetrance but variable phenotypic expression.
- NF-1 (von Recklinghausen disease)
- A complex disorder with neurologic, cutaneous, skeletal, vascular, and endocrinologic abnormalities
- Neurofibromas are benign tumors that:
- Appear in late childhood
- Grow in response to hormonal changes
- Proliferate with age
- May compromise local function by mass effect
- NF-2
- A tumor syndrome defined by the presence of bilateral vestibular schwannomas
- Also known as multiple inherited schwannomas, meningiomas, and ependymoma syndrome
- NF-3 (mixed) and NF-4 (variant)
- Autosomal dominant
- Resemble NF-2
- More cutaneous NFs
- Greater risk of optic gliomas, neurilemmoma, meningiomas
- NF-5 (segmental)
- Skin lesions are located on a single body segment (eg, leg)
- Somatic mosaicism
- NF-6
- Café-au-lait macules (CALMs)
- CALM is only disease manifestation
- Requires 2 generations to diagnose
- NF-7
- Late-onset
- Symptoms manifest in the 20s
- Not known whether it is heritable
- Tuberous sclerosis complex (TSC), or Bourneville disease
- Autosomal dominant multisystem disorder
- Characterized by perturbed cellular growth and differentiation in the brain, heart, kidneys, skin, eyes, and other tissues
- Sturge-Weber syndrome (SWS), or encephalotrigeminal angiomatosis
- Rare sporadic disorder
- Characterized by:
- Upper facial port wine stain (PWS)
- Ipsilateral ocular abnormalities
- Ipsilateral leptomeningeal angiomatosis
- Only 1 or 2 of the triad features may be present.
- Leptomeningeal involvement is defining element.
- Von Hippel-Lindau disease (VHL) is an autosomal-dominant multiorgan familial cancer syndrome.
- Subtype 1
- High risk for hemangioblastoma, renal cell carcinoma, pancreatic cyst or tumor
- Low risk for pheochromocytoma
- Subtype 2a
- High risk for hemangioblastoma, pheochromocytoma
- Low risk for renal cell carcinoma, pancreatic cyst or tumor
- Subtype 2b
- High risk for hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic cyst or tumor
- Subtype 2c
- High risk for pheochromocytoma
- Low risk for hemangioblastoma, renal cell carcinoma, pancreatic cyst or tumor
- Ataxia-telangiectasia (A-T), or Louis-Bar syndrome
- Autosomal-recessive progressive neurodegenerative disorder
Neurocutaneous Syndromes has been found in Point-of-Care Quick Reference
To view this topic, please login. Pediatric Care Online allows you to quickly access multiple pediatric resources, all in one place, for the most recent clinical information you need at the point-of-care.
View these topics FREE! 
Quick Reference Textbook Bright Futures For full access, please learn more.
| |
Point-of-Care Quick Reference
