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Case 15
Multiple pigmented lesions in a 9 ½ months-old girl
SUPERFICIAL PERIVASCULAR DERMATITIS
INTERFACE
Lymphocytes predominate
Ballooning and individual necrotic keratinocytes
Normal cornified layer
Erythema multiforme
Blaschko lines Chessboard pattern
Lateral pattern Patched pattern with middle line involvement
Phyloid pattern
Patterns of cutaneous mosaicism
-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
Case 15Diagnosis:Incontinentia pigmenti
Blaschko lines Chessboard pattern
Lateral pattern Patched pattern with middle line involvement
Phyloid pattern
Patterns of cutaneous mosaicism
Alfred Blaschko (1858-1922)
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
ALFRED BLASCHKO
SYPHILIS UND PROSTITUTION: VOM STANDPUNKTE DER ÖFFENTLICHEN
GESUNDHEITSPFLEGE
Hygieia
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.
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.”
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
XY xX
xY XY XX xX
Usually dying in uterus (Rare cases survive)
xXxXxX
xXxXxX
x X
xX
xX
xX
xXxX
xX xX
xX
xXxX
xX
xX
xXxX
xXxX
xX
xX xXxX xX
xX
xX
Embryonic cells
Selection around the time of birth
Selection around the time of birth
IKBKG gene
IKBKG gene
NF-kappa-B essential modulator
(NEMO)
IkB kinase
CELLCytokinesChemokinesAdhesion molecules
Abnormalities in microvasculature
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
Stage I: bullous
Stage II: verrucous
Stage III: linear hyperpigmentation
Stage IV: pallor and atrophy
Stage I: bullous
Stage II: verrucous
Stage III: hyperpigmentation
Case 15:Incontinentia pigmenti
Stage III
XY xX
Thank you!