Skin clues
Neurofibromatosis Types 1 and 2
TSC
Sturge Weber Syndrome
100
These flat, light-brown skin lesions are commonly associated with neurofibromatosis type 1.
Café-au-lait macules
100
Which neurofibromatosis type is characterized by multiple café-au-lait macules and cutaneous neurofibromas?
NF1
100
These benign cardiac tumors may be detected prenatally or in infancy in children with TSC.
Cardiac rhabdomyomas
100
This facial vascular birthmark is the classic cutaneous clue to Sturge-Weber syndrome.
Port wine stain
200
These hypopigmented, leaf-shaped macules are a classic cutaneous finding in tuberous sclerosis complex.
Ash-leaf macules
200
These pigmented hamartomas of the iris are a characteristic finding in neurofibromatosis type 1.
Lisch nodules
200
These abnormal areas of cortical development are associated with seizures and neurodevelopmental difficulties in TSC.
Cortical tubers
200
These abnormal blood vessels involving the coverings of the brain are associated with Sturge-Weber syndrome.
Leptomeningeal angiomas
300
Freckling in the axillary or inguinal regions is a characteristic finding of which neurocutaneous disorder?
NF1
300
Children with neurofibromatosis type 1 are at increased risk for these tumors involving the optic nerve and visual pathway.
Optic pathway glioma
300
These lesions located near the walls of the cerebral ventricles may be seen on brain imaging in TSC
Subependymal nodules
300
This potentially vision-threatening condition can occur in children with Sturge-Weber syndrome.
Glaucoma
- Vascular malformations (hemangiomas) on the surface of the eye raise pressure in the episcleral veins, blocking normal fluid (aqueous humor) drainage
400
These benign growths occur around or beneath the fingernails and toenails in patients with tuberous sclerosis complex.
Periungual fibromas
400
In addition to café-au-lait macules, name one other clinical finding that can help establish the diagnosis of NF1.
400
These benign renal tumors can cause bleeding and compromise renal function in patients with TSC.
Renal angiomyolipoma
400
What neurologic presentation commonly brings children with Sturge-Weber syndrome to medical attention?
Seizure
Seizures affect 70% to 93% of patients with Sturge-Weber syndrome
500
This thickened, leathery, orange-peel-like skin lesion is commonly found on the lower back in tuberous sclerosis complex.
Shagreen patch
500
Bilateral vestibular schwannomas are the hallmark tumor finding of which disorder?
NF2