I N C O N T I N E N T IA AAAAAAAA
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= Bloch–Sulzberger Syndrome
Rare, X-linked, dominantly inherited disorder of skin pigmentation that often
is associated with CNS, ocular and dental abnormalities
How Can It Is Presented?
Stage 1: VESICULAR STAGE
From birth to 2 weeks with linear vesicles, pustules & bullae
with erythema whorled along the lines of Blaschko
Stage 2: VERRUCOUS STAGE
between ages 2 and 8 weeks with warty, keratotic linear papules and
plaques
Stage 3: HYPERPIGMENTED STAGE
between ages 3–6 months with macular hyperpigmentation in a
swirled pattern along the lines of Blaschko. These changes often involve
the nipples, axilla & groin
Stage 4 HYPOPIGMENTED STAGE
from infancy through adulthood.with hypopigmented streaks and/or
patches and cutaneous atrophy
IP usually associated with patchy scarring alopecia, nail pitting
IP usually associated absent teeth )anodontia( or peg-shaped teeth
IP usually associated with patchy CNSabnormalities )seizures, delayed
psychomotor development(
IP usually associated with oculardisease )retinal vascular abnormalities,
blindness(
Where Can You Find The Affected Gene?
NEMO gene mutation
)NFκB essential modulator(
How Is It Inherited?
X-Linked Dominant
X-LINKED DOMINANT SYNDROMES “BIG Child” with an X-linked dominant
syndromeB = Bazex syndrome
I = Incontinentia pigmentiG = Goltz syndrome )focal dermal
hypoplasia(Child = CHILD syndrome
If male Lethal in utero
What Can You See In The Biopsy?
What Work Up You Can Do?
CBC frequently shows eosinophilia
Skin biopsy
CT scan or MRI of brain may show
abnormalities
MOLECULAR GENETICS: NEMO gene
How Can IP Be Treated?
No “cure” for IP exists yet
In stage 1The main goal is to prevent secondary bacterial infection of skin lesions & to monitor closely the development of
related problems
Meticulous dental care is very important.
close monitoring by an ophthalmologist for the first few years of life
As IP is an X-linked dominant disease, GENETIC COUNSELING regarding the risk
of affected offspring is very important
R e f e r e n c e s
dermnetnz.org
Google images
en.wikipedia.org
Bolognia Textbook of Dermatology 3rd ed