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!