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15 Cards in this Set

  • Front
  • Back
Key features of a neurocutaneous syndrome
a. Disordered growth of ectodermal tissue
b. Malformations or tumors of the central nervous system (CNS)
Phakomatoses
neurocutaneous syndromes
Know the inheritance of a patient with tuberous sclerosis
Autosomal dominant disorder
Know the clinical findings of a patient with tuberous sclerosis
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
Know how to recognize a patient with tuberous sclerosis
Adenoma sebaceum (angiokeratoma) on the face, periungual fibromas
d. Hypopigmented skin lesions (“ash leaf” lesions) that are best identified with Wood's lamp
Tuberous sclerosis:
mental retardation; hamartomas in brain, kidneys
Know the inheritance of neurofibromatosis
Autosomal dominant disorder
Know the clinical findings of neurofibromatosis
Café-au-lait macules, pigmented neurofibromas, Lisch nodules (Hamartomas in the iris), Kyphoscoliosis, Optic nerve glioma, meningioma, acoustic neuroma, and Wilms' tumor
Know the associations with neurofibromatosis
Neurofibromatosis is associated with pheochromocytoma, acoustic neuromas, meningiomas, Pheochromocytoma, Wilms’ tumor
Know how to recognize neurofibromatosis
Café-au-lait macules, pigmented neurofibromas, and Lisch nodules (Hamartomas in the iris)
Neurofibrosarcoma
Usually involving large nerve trunks.
Know the inheritance of Sturge-Weber syndrome
Somatic mosaicism or sporadic
Know the clinical findings of Sturge-Weber syndrome
a. Vascular malformation on the face
b. Ipsilateral arteriovenous malformation in the meninges in some cases
c. Mental retardation
d. Seizures
Know the associations of Sturge-Weber syndrome
Capillary hemangioma involve side of face and ipsilateral meninges and cerebreal cortex,
mental retardation and seizures
Know how to recognize Sturge-Weber syndrome
flammeus nevus (port wine stain) involving opthalmic division of trigeminal nerve.