Neurocutaneous Syndromes

Front 1

Key features of a neurocutaneous syndrome

Back 1

a. Disordered growth of ectodermal tissue
b. Malformations or tumors of the central nervous system (CNS)

Front 2

Phakomatoses

Back 2

neurocutaneous syndromes

Front 3

Know the inheritance of a patient with tuberous sclerosis

Back 3

Autosomal dominant disorder

Front 4

Know the clinical findings of a patient with tuberous sclerosis

Back 4

a. Mental retardation and seizures beginning in infancy
b. Adenoma sebaceum (angiokeratoma) on the face, c. periungual fibromas
d. Hypopigmented skin lesions (“ash leaf” lesions)
•Best identified with Wood's lamp
e.Hamartomatous lesions
(1) Astrocyte proliferations in subependyma -Look like “candlestick drippings” in the ventricles
(2)Angiomyolipomas in the kidneys
f. Rhabdomyoma in the heart

Front 5

Know how to recognize a patient with tuberous sclerosis

Back 5

Adenoma sebaceum (angiokeratoma) on the face, periungual fibromas
d. Hypopigmented skin lesions (“ash leaf” lesions) that are best identified with Wood's lamp

Front 6

Tuberous sclerosis:

Back 6

mental retardation; hamartomas in brain, kidneys

Front 7

Know the inheritance of neurofibromatosis

Back 7

Autosomal dominant disorder

Front 8

Know the clinical findings of neurofibromatosis

Back 8

Café-au-lait macules, pigmented neurofibromas, Lisch nodules (Hamartomas in the iris), Kyphoscoliosis, Optic nerve glioma, meningioma, acoustic neuroma, and Wilms' tumor

Front 9

Know the associations with neurofibromatosis

Back 9

Neurofibromatosis is associated with pheochromocytoma, acoustic neuromas, meningiomas, Pheochromocytoma, Wilms’ tumor

Front 10

Know how to recognize neurofibromatosis

Back 10

Café-au-lait macules, pigmented neurofibromas, and Lisch nodules (Hamartomas in the iris)

Front 11

Neurofibrosarcoma

Back 11

Usually involving large nerve trunks.

Front 12

Know the inheritance of Sturge-Weber syndrome

Back 12

Somatic mosaicism or sporadic

Front 13

Know the clinical findings of Sturge-Weber syndrome

Back 13

a. Vascular malformation on the face
b. Ipsilateral arteriovenous malformation in the meninges in some cases
c. Mental retardation
d. Seizures

Front 14

Know the associations of Sturge-Weber syndrome

Back 14

Capillary hemangioma involve side of face and ipsilateral meninges and cerebreal cortex,
mental retardation and seizures

Front 15

Know how to recognize Sturge-Weber syndrome

Back 15

flammeus nevus (port wine stain) involving opthalmic division of trigeminal nerve.