Incontinentia pigmenti and Epidermal nervus syndrome Flashcards
1
Q
What is Incontinentia pigmenti?
A
Skin abnormalities that evolve through childhood and young adulthood
i.e., multisystem ectodermal
2
Q
How is the CNS affected in incontinentia pigmenti?
A
33% experience seizures, spastic paralysis and microcephaly (baby’s head is smaller than expected)
3
Q
How often does IP occur in Dental
A
80%
4
Q
How often does IP occur in Ocular
A
30%
5
Q
Is IP lethal in males
A
Yes
6
Q
Is IP dominant in females
A
Yes
7
Q
What gene is linked to IP
A
NEMO gene - NF-kB
8
Q
What is Epidermal nevus syndrome
A
Overgrowth of skin/skin lesions
9
Q
Is EN sporadic or frequent?
A
Sporadic
10
Q
Where can a nevus occur?
A
Forehead, nose and scalp
11
Q
Do seizures occur in EN?
A
Yes - 75%
Infantile spasms, GTCS and Tonic seizures
12
Q
Are there cognitive deficits in EN
A
Yes, 70%
