Neurocutaneous Syndromes
Neurology Dx
Characterized by abnormalities of both the integument and CNS
Most disorders are familial and believed to arise from a defect in differentiation of the primitive ectoderm
Neurofibromatosis 1
Neurofibromatosis 2
Tuberous sclerosis complex
Sturge-Weber syndrome (facial capillary malformations, leptomeningeal capillary-venous malformations, glaucoma)
von Hippel–Lindau disease
PHACES syndrome
ataxia telangiectasia (cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias, and immune deficiency)
linear nevus syndrome
hypomelanosis of Ito
incontinentia pigmenti
NF1: (Chr 17 AD) Cafe au lait, optic nerve glioma, lisch nodules, neurofibromas, Wilms, pheo, MPNST
NF2: (Chr 22 AD) Vestibular schwannoma, meningioma, ependymoma
TS: (Chr 9 AD) seizures, ash leaf, cortical and subependymal tubers (harmatomas), white matter changes, cardiac rhabdo, renal angiomyolipoma, angiofibromas
Characterized by abnormalities of both the integument and CNS
Most disorders are familial and believed to arise from a defect in differentiation of the primitive ectoderm
Neurofibromatosis 1
Neurofibromatosis 2
Tuberous sclerosis complex
Sturge-Weber syndrome (facial capillary malformations, leptomeningeal capillary-venous malformations, glaucoma)
von Hippel–Lindau disease
PHACES syndrome
ataxia telangiectasia (cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias, and immune deficiency)
linear nevus syndrome
hypomelanosis of Ito
incontinentia pigmenti
NF1: (Chr 17 AD) Cafe au lait, optic nerve glioma, lisch nodules, neurofibromas, Wilms, pheo, MPNST
NF2: (Chr 22 AD) Vestibular schwannoma, meningioma, ependymoma
TS: (Chr 9 AD) seizures, ash leaf, cortical and subependymal tubers (harmatomas), white matter changes, cardiac rhabdo, renal angiomyolipoma, angiofibromas