Rare, X-linked, dominantly inherited disorder of skin pigmentation that often is associated with CNS, ocular and dental abnormalities

1. INCONTINENTIA PIGMENTI
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2. ‫المائدة‬(48)

3. IP

4. = Bloch–Sulzberger Syndrome

5. What Is IP?

6. Rare, X-linked, dominantly inherited disorder of
skin pigmentation that often is associated with
CNS, ocular and dental abnormalities

8. How Can It Is Presented?

27. 4 Stages

28. V
V
H
H

29. Stage 1:
VESICULAR STAGE

30. From birth to 2 weeks
with linear vesicles, pustules & bullae with
erythema whorled along the lines of Blaschko

31. Stage 2:
VERRUCOUS STAGE

32. between ages 2 and 8 weeks
with warty, keratotic linear papules and plaques

33. Stage 3:
HYPERPIGMENTED STAGE

34. 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

35. Stage 4
HYPOPIGMENTED STAGE

36. from infancy through adulthood.
with hypopigmented streaks and/or patches and
cutaneous atrophy

37. IP usually associated with patchy scarring
alopecia, nail pitting

38. IP usually associated absent teeth (anodontia) or
peg-shaped teeth

39. IP usually associated with patchy CNS
abnormalities (seizures, delayed psychomotor
development)

40. IP usually associated with ocular
disease (retinal vascular abnormalities, blindness)

42. Where Can You Find
The Affected Gene?

45. NEMO gene mutation
(NFκB essential modulator)

47. How Is It Inherited?

48. X-Linked Dominant

50. X-LINKED DOMINANT SYNDROMES
“BIG Child” with an X-linked dominant syndrome
B = Bazex syndrome
I = Incontinentia pigmenti
G = Goltz syndrome (focal dermal hypoplasia)
Child = CHILD syndrome

51. If male  Lethal in utero

53. What Can You See In The Biopsy?

62. What Work Up You Can Do?

63. CBC frequently shows eosinophilia
Skin biopsy
CT scan or MRI of brain may show abnormalities
MOLECULAR GENETICS: NEMO gene

65. How Can IP Be Treated?

66. No “cure” for IP exists yet

67. In stage 1
The main goal is to prevent secondary bacterial
infection of skin lesions & to monitor closely the
development of related problems

68. Meticulous dental care is very important.

69. close monitoring by an ophthalmologist for the
first few years of life

70. As IP is an X-linked dominant disease, GENETIC
COUNSELING regarding the risk of affected
offspring is very important

72. References
dermnetnz.org
Google images
en.wikipedia.org
Bolognia Textbook of Dermatology 3rd ed

73. THANK YOU