Neurocutaneous

Question 1

Cafe-au-lait spots

Answer 1

milk with coffee color
Boarder can be smooth
Can be normal or suggest condition
Examples: NF1, McCull Albright, Cowden, Noonan

Question 2

Nevus Simplex

Answer 2

Angel’s kiss
Pink
Blanch (turns white when pushed on and then back to pink)
Bilateral
Example: Beckwith-Wiedeman

Question 3

Nevus Flammeus

Answer 3

Portwine stain
Doesn’t cross midline
Doesn’t go away with time
Reddish or purplish
Doesn’t blanch
Usually part of larger syndrome

Question 4

What are Nevus Simplex and Nevus Flammeus due to

Answer 4

Abnormal blood vessels forming

Question 5

Hamengiomas

Answer 5

Raised and bumpy
Blood vessels overgrown
Usually go away with age
If near the nose, eyes, mouth, may impair senses
Usually not syndromic
Easily bleed

Question 6

Telangiectasias

Answer 6

Veinuous malformation
Tiny whispy vessels
In whites of eyes, lips, skin

Question 7

NF1 gene

Answer 7

NF1
17q11.2
AD

Question 8

NF1 Findings

Answer 8

Skin findings - cafe-au-lait, neurofibromas
Macrocephaly
ADHD
Tumor formation
Increased blood pressure
Increased cancer risk
Scoliosis

Question 9

Neurofibromas

Answer 9

growth
Can be inside or outside
Can be along nervous system
Not painful

Question 10

NF1 Diagnostic Criteria

Answer 10

Must meet 2 or more
6 or more cafe-au-lait macules over 5 mm in prepubertal and over 15 mm in postpubertal
Axillary or inguinal freckling
2 or more neurofibromas of any type or 1 plexiform neurofibroma
Optic pathway glioma
2 or more lisch nodules or 2 or more choroidal abnormalities
Distinction osseous lesion
Heterozygous pathogenic NF1 variant
Child of parent with NF1

Question 11

NF1 Differential Diagnosis

Answer 11

Legius Syndrome
NF2

Question 12

Legius Syndrome

Answer 12

Gene: SPRED1 (15q14)
Cafe-au-lait and axillary freckling
Learning difficulties
No neurofibromas

Question 13

NF2 findings

Answer 13

Schwannomas

Question 14

McCune-Albright Gene

Answer 14

GNAS
20q13.32
Somatic mosaicism

Question 15

McCune-Albright findings

Answer 15

Skin - cafe-au-lait spots, unilateral, can be large, also called coast of Maine
Skeletal - Fibrous dysplasias (bones are weak) on the face, axial, and appendicular, deformities, fractures, hearing loss, blindness
Endocrine - precocious puberty (early), testicular lesions, excess growth hormone, thyroid issues, high cortisol
Can be painful

Question 16

Tuberous Sclerosis Gene

Answer 16

TSC1 (9q34.13) and TSC2 (16p13.3)
AD

Question 17

Tuberous Sclerosis Signs

Answer 17

Angiofibromas
Hypomelinogtic spot (ashleaf spot)
Confetti skin lesions (skin around ashleaf is bunch of little spots)
Shagreen patch (raised, firm scar like tissue on lower back)
Orange peel
Orgo fibromas (growths around nails)

Question 18

Tuberous Sclerosis Conditions by organ system

Answer 18

Skin
Brain - subependymal nodules, cortical tubers, subependymal giant cell astrocytes (SEGAs), seizures, ID/DD, psychiatric illness
Heart - rhabdomyoma (abnormal growth in heart chambers), arrhythmias
Kidney - angiomyolipomas, cysts, renal cell carcinoma
Lungs - mymphangioleiomyomatosis, multifocal micronodular penumocyte hyperplasia

Question 19

Sturge-Weber Syndrome Gene

Answer 19

GNAQ 9q21.2
Somatic mosaicism

Question 20

Signs of Sturge-Weber

Answer 20

Nevus flammeus (a lot on the face along trigeminal nerve)
Angiomas - growth of vessels (can cause glaucoma, choroid in the brain, and leptomeninges in the brain lining, which can lead to seizures)

Question 21

Sturge-Weber portwein stain risks percentage of brain involvement

Answer 21

10-35%

Question 22

Ataxia-Telangiectasia Gene

Answer 22

ATM 11q22.3
AR

Question 23

When does the ataxia start for ataxia-telangiectasia

Answer 23

1-4 years old

Question 24

Telangiectasia of what is in ataxia-telangiectasia

Answer 24

white of the eye

Question 25

Telangiectasias start at what age for ataxia-telangiectasia

Answer 25

2-8 years old

Question 26

Symptoms of Ataxia-Telangiectasia

Answer 26

Oculomotor apraxia
Seizures
Dystonia
Choreoathetosis
Immunodeficiency
Increased risk for malignancy (leukemia, lymphoma)
Sensitive to ionizing radiation

Question 27

Hereditary Hemorrhagic Telangiectasia (HHT) Gene

Answer 27

ACVRL1, ENG, SMAD4
AD

Question 28

Signs of Hereditary Hemorrhagic Telangiectasia (HHT)

Answer 28

Arteriovenous Malformations (AVM)
red dots on lips, tongue, finger tips, skin, in pulmonary (can cause lung bleeds), cerebral (can cause strokes and brain bleeds), and liver
Raised bumps
Blanch
Gets with age

Question 29

Arteriovenous malformations (AVM)

Answer 29

improper connections between veins and arteries (capillaries)

Question 30

Incontinentia Pigmenti Gene

Answer 30

IKBKG Xq28
X-linked dominant

Question 31

Gender facts of Incontinentia Pigmenti

Answer 31

Usually lethal for males
Seen more in females

Question 32

4 stages of incontinentia pigmenti

Answer 32

Vesicular
Verrucous
Hyperpigmented
Hypopigmented

Question 33

Vesicular stage of incontinentia pigmenti

Answer 33

90% frequency
birth to 16 weeks
fluid filled vessicles

Question 34

Verrucous stage of incontinentia pigmenti

Answer 34

70% frequency
2 weeks to 24 weeks
thick plaque like areas

Question 35

Hyperpigmented stage of incontinentia pigmenti

Answer 35

98% frequency
12 weeks to adolescence
Whorls of hyperpigmentation

Question 36

Hypopigmented stage of incontinentia pigmenti

Answer 36

42% frequency
Adolescence to adulthood
pale, hairless, atrophic streaks

Question 37

Symptoms of incontinentia pigmenti

Answer 37

skin
Eyes - neovascularization of the retina, retinal detachment, blindness
Brain - seizures, abnormal microvasculature
Development - ID, DD
Teeth/hair/nails - abnormal tooth shape, hypodontia, alopecia, dystrophic nails