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Case 15

Case 15. Multiple pigmented lesions in a 9 ½ months-old girl. SUPERFICIAL PERIVASCULAR DERMATITIS INTERFACE. Normal cornified layer. Ballooning and individual necrotic keratinocytes. Lymphocytes predominate. Erythema multiforme. E. … so are Dermatologists. Blaschko lines.

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Case 15

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  1. Case 15

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

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

  4. E. … so are Dermatologists

  5. Blaschko lines Chessboard pattern Phyloid pattern Patterns of cutaneousmosaicism Patched pattern with middle line involvement Lateral pattern

  6. Cutaneouslesionssincethefirstdaysafterbirth. • Fromtheseconddayafterbirth up tothethirdweek: • Seizures of arounf 1 minute • Lost of conciousness • Deviation of themouth - The mother had been diagnosed of incontinentia pigmenti

  7. Case 15 Diagnosis: Incontinentia pigmenti

  8. Blaschko lines Chessboard pattern Phyloid pattern Patterns of cutaneousmosaicism Patched pattern with middle line involvement Lateral pattern

  9. Alfred Blaschko (1858-1922)

  10. 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

  11. SYPHILIS UND PROSTITUTION: VOM STANDPUNKTE DER ÖFFENTLICHEN GESUNDHEITSPFLEGE ALFRED BLASCHKO

  12. Hygieia

  13. The cause of the streaks in naevus linearis. Montgomery D.W. J Cutaneous Genitourinary Dis 1901;19:455-464. He concluded that these lines reflected the streams or trends of growth of embryonic tissues.

  14. Epidermal mosaicism and Blaschko’s lines Moss C, Larkins S, Stacey M, Blisht A, Farndon P.A., Davison E.V. J Med genet 1993;30:752-755 “Blaschko’s lines represent single clones of epidermal cells.”

  15. The genetics of Incontinentia Pigmenti Curth H.O., Warburton D. Arch Dermatol. 1965 Sep;92:229-35. It reflects functional chromosome mosaicism (Lyonization). Inactivation of X chromosome Mary L. Lyon proposed the mechanism in 1961 Izein (to cause)

  16. XY xX xY XY XX xX Usuallydying in uterus (Rare cases survive)

  17. xX xX xX xX x X xX xX xX xX xX xX xX x x X X

  18. xX xX xX xX xX xX xX xX xX xX xX xX xX xX xX xX

  19. Embryonic cells

  20. Selection around the time of birth

  21. Selection around the time of birth

  22. IKBKG gene

  23. IKBKG gene NF-kappa-B essential modulator (NEMO)

  24. IkBkinase CELL Abnormalities in microvasculature Cytokines Chemokines Adhesionmolecules

  25. Skin Hair Teeth Nails Eyes Central nervoussystem • 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

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

  27. Stage I: bullous

  28. Stage II: verrucous

  29. Stage III: hyperpigmentation

  30. Case 15: Incontinentia pigmenti Stage III

  31. Thank you! XY xX

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