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Case 15. Multiple pigmented lesions in a 9 ½ months-old girl.

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Presentation on theme: "Case 15. Multiple pigmented lesions in a 9 ½ months-old girl."— 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 Lymphocytes predominate Ballooning and individual necrotic keratinocytes Normal cornified layer Erythema multiforme

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

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 Blaschko linesChessboard pattern Lateral pattern Patched pattern with middle line involvement Phyloid pattern Patterns of cutaneous mosaicism

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18 Alfred Blaschko ( )

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

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 Blaschkos lines Moss C, Larkins S, Stacey M, Blisht A, Farndon P.A., Davison E.V. J Med genet 1993;30: Blaschkos lines represent single clones of epidermal cells.

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

26 XY xXxX xYxY xYxY XYXY XYXYXX xXxX xXxX Usually dying in uterus (Rare cases survive)

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

28 xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX xXxX

29 Embryonic cells

30 Selection around the time of birth

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34 IKBKG gene

35 NF-kappa-B essential modulator (NEMO)

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

37 Skin Hair Teeth Nails Eyes Central nervous system Skin Hair Teeth Nails Eyes Central nervous system xXxX xXxX 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 Great impact on the quality of life: -Seizures -Microcephaly -Ataxia -Spastic paralysis

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 XY xXxX Thank you!


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