Neurocutaneous Flashcards
Cafe-au-lait spots
milk with coffee color
Boarder can be smooth
Can be normal or suggest condition
Examples: NF1, McCull Albright, Cowden, Noonan
Nevus Simplex
Angel’s kiss
Pink
Blanch (turns white when pushed on and then back to pink)
Bilateral
Example: Beckwith-Wiedeman
Nevus Flammeus
Portwine stain
Doesn’t cross midline
Doesn’t go away with time
Reddish or purplish
Doesn’t blanch
Usually part of larger syndrome
What are Nevus Simplex and Nevus Flammeus due to
Abnormal blood vessels forming
Hamengiomas
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
Telangiectasias
Veinuous malformation
Tiny whispy vessels
In whites of eyes, lips, skin
NF1 gene
NF1
17q11.2
AD
NF1 Findings
Skin findings - cafe-au-lait, neurofibromas
Macrocephaly
ADHD
Tumor formation
Increased blood pressure
Increased cancer risk
Scoliosis
Neurofibromas
growth
Can be inside or outside
Can be along nervous system
Not painful
NF1 Diagnostic Criteria
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
NF1 Differential Diagnosis
Legius Syndrome
NF2
Legius Syndrome
Gene: SPRED1 (15q14)
Cafe-au-lait and axillary freckling
Learning difficulties
No neurofibromas
NF2 findings
Schwannomas
McCune-Albright Gene
GNAS
20q13.32
Somatic mosaicism
McCune-Albright findings
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
Tuberous Sclerosis Gene
TSC1 (9q34.13) and TSC2 (16p13.3)
AD
Tuberous Sclerosis Signs
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)
Tuberous Sclerosis Conditions by organ system
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
Sturge-Weber Syndrome Gene
GNAQ 9q21.2
Somatic mosaicism
Signs of Sturge-Weber
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)
Sturge-Weber portwein stain risks percentage of brain involvement
10-35%
Ataxia-Telangiectasia Gene
ATM 11q22.3
AR
When does the ataxia start for ataxia-telangiectasia
1-4 years old
Telangiectasia of what is in ataxia-telangiectasia
white of the eye
Telangiectasias start at what age for ataxia-telangiectasia
2-8 years old
Symptoms of Ataxia-Telangiectasia
Oculomotor apraxia
Seizures
Dystonia
Choreoathetosis
Immunodeficiency
Increased risk for malignancy (leukemia, lymphoma)
Sensitive to ionizing radiation
Hereditary Hemorrhagic Telangiectasia (HHT) Gene
ACVRL1, ENG, SMAD4
AD
Signs of Hereditary Hemorrhagic Telangiectasia (HHT)
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
Arteriovenous malformations (AVM)
improper connections between veins and arteries (capillaries)
Incontinentia Pigmenti Gene
IKBKG Xq28
X-linked dominant
Gender facts of Incontinentia Pigmenti
Usually lethal for males
Seen more in females
4 stages of incontinentia pigmenti
Vesicular
Verrucous
Hyperpigmented
Hypopigmented
Vesicular stage of incontinentia pigmenti
90% frequency
birth to 16 weeks
fluid filled vessicles
Verrucous stage of incontinentia pigmenti
70% frequency
2 weeks to 24 weeks
thick plaque like areas
Hyperpigmented stage of incontinentia pigmenti
98% frequency
12 weeks to adolescence
Whorls of hyperpigmentation
Hypopigmented stage of incontinentia pigmenti
42% frequency
Adolescence to adulthood
pale, hairless, atrophic streaks
Symptoms of incontinentia pigmenti
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
