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IP

= Bloch–Sulzberger Syndrome

What Is IP?

Rare, X-linked, dominantly inherited disorder of skin pigmentation that often

is associated with CNS, ocular and dental abnormalities

How Can It Is Presented?

4 Stages

V

V

H

H

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

THANK YOU