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Case 15.

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Presentation on theme: "Case 15."— Presentation transcript:

1 Case 15

2 Multiple pigmented lesions in a 9 ½ months-old girl

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6 SUPERFICIAL PERIVASCULAR DERMATITIS
INTERFACE Normal cornified layer Ballooning and individual necrotic keratinocytes Lymphocytes predominate Erythema multiforme

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8 E. … so are Dermatologists

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13 Patterns of cutaneous mosaicism
Blaschko lines Chessboard pattern Phyloid pattern Patterns of cutaneous mosaicism Patched pattern with middle line involvement Lateral pattern

14 Cutaneous lesions since the first days after birth.
From the second day after birth up to the third week: Seizures of arounf 1 minute Lost of conciousness Deviation of the mouth - The mother had been diagnosed of incontinentia pigmenti

15 Case 15 Diagnosis: Incontinentia pigmenti

16 Patterns of cutaneous mosaicism
Blaschko lines Chessboard pattern Phyloid pattern Patterns of cutaneous mosaicism Patched pattern with middle line involvement Lateral pattern

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18 Alfred Blaschko ( )

19 Congress zu Breslau im Mai 1901
Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut: Beilage zu den Verhandlungen der Deutschen Dermatologischen Gesellschaft, VII. Congress zu Breslau im Mai 1901 Naevuslinien

20 SYPHILIS UND PROSTITUTION: VOM STANDPUNKTE DER ÖFFENTLICHEN GESUNDHEITSPFLEGE
ALFRED BLASCHKO

21 Hygieia

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23 The cause of the streaks in naevus linearis.
Montgomery D.W. J Cutaneous Genitourinary Dis 1901;19: He concluded that these lines reflected the streams or trends of growth of embryonic tissues.

24 Epidermal mosaicism and Blaschko’s lines
Moss C, Larkins S, Stacey M, Blisht A, Farndon P.A., Davison E.V. J Med genet 1993;30: “Blaschko’s lines represent single clones of epidermal cells.”

25 Inactivation of X chromosome
The genetics of Incontinentia Pigmenti Curth H.O., Warburton D. Arch Dermatol Sep;92: It reflects functional chromosome mosaicism (Lyonization). Inactivation of X chromosome Mary L. Lyon proposed the mechanism in 1961 Izein (to cause)

26 XY xX xY XY XX xX Usually dying in uterus (Rare cases survive)

27 xX xX xX xX xX x X xX xX xX xX xX xX x x X X

28 xX xX xX xX xX xX xX xX xX xX xX xX xX xX xX xX

29 Embryonic cells

30 Selection around the time of birth

31 Selection around the time of birth

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34 IKBKG gene

35 IKBKG gene NF-kappa-B essential modulator (NEMO)

36 Abnormalities in microvasculature
IkB kinase CELL Abnormalities in microvasculature Cytokines Chemokines Adhesion molecules

37 xX Skin Hair Teeth Nails Eyes Central nervous system
Great impact on the quality of life: Seizures Microcephaly Ataxia Spastic paralysis xX Landy and Donnai. J Med Genet 1993;30:53-59 Major criteria: skin lesions - Erythema - Hyperpigmented streaks and whorls - pale hairless atrophic linear strakes or patches Minor criteria: - Dental & oral, hair and retinal abnormalities

38 Stage I: bullous Stage II: verrucous Stage III: linear hyperpigmentation Stage IV: pallor and atrophy

39 Stage I: bullous

40 Stage II: verrucous

41 Stage III: hyperpigmentation

42 Case 15: Incontinentia pigmenti Stage III

43 Thank you! XY xX


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