case 15. multiple pigmented lesions in a 9 ½ months-old girl
TRANSCRIPT
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Case 15
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Multiple pigmented lesions in a 9 ½ months-old girl
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SUPERFICIAL PERIVASCULAR DERMATITIS
INTERFACE
Lymphocytes predominate
Ballooning and individual necrotic keratinocytes
Normal cornified layer
Erythema multiforme
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Blaschko lines Chessboard pattern
Lateral pattern Patched pattern with middle line involvement
Phyloid pattern
Patterns of cutaneous mosaicism
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-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
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Case 15Diagnosis:Incontinentia pigmenti
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Blaschko lines Chessboard pattern
Lateral pattern Patched pattern with middle line involvement
Phyloid pattern
Patterns of cutaneous mosaicism
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Alfred Blaschko (1858-1922)
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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 1901Naevuslini
en
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ALFRED BLASCHKO
SYPHILIS UND PROSTITUTION: VOM STANDPUNKTE DER ÖFFENTLICHEN
GESUNDHEITSPFLEGE
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Hygieia
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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.
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Epidermal mosaicism and Blaschko’s linesMoss 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.”
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The genetics of Incontinentia PigmentiCurth H.O., Warburton D.Arch Dermatol. 1965 Sep;92:229-35.
It reflects functional chromosome mosaicism (Lyonization).
Izein (to cause)Mary L. Lyon proposed the mechanism in 1961
Inactivation of X chromosome
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XY xX
xY XY XX xX
Usually dying in uterus (Rare cases survive)
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xXxXxX
xXxXxX
x X
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xXxX
xX xX
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xX
xXxX
xX
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xXxX
xXxX
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xX xXxX xX
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xX
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Embryonic cells
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Selection around the time of birth
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Selection around the time of birth
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IKBKG gene
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IKBKG gene
NF-kappa-B essential modulator
(NEMO)
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IkB kinase
CELLCytokinesChemokinesAdhesion molecules
Abnormalities in microvasculature
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SkinHairTeethNailsEyesCentral nervous system
xXLandy 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
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Stage I: bullous
Stage II: verrucous
Stage III: linear hyperpigmentation
Stage IV: pallor and atrophy
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Stage I: bullous
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Stage II: verrucous
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Stage III: hyperpigmentation
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Case 15:Incontinentia pigmenti
Stage III
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XY xX
Thank you!