Incontinentia Pigmenti
- Think W: Whirly woman: whirly
skin, whirly brain, whirly eyes, wacky teeth and bones
- X-linked dominant; lethal in most males
- Incontinentia pigmenti refers to the loss of melanin from basal cells in
the epidermis
- 3 stages of lesions: vesicular, verrucous, and hyperpigmented
- The skin manifestations occur along the
lines of Blaschko, which represent the routes of embryonic cell
migration.
- Hypopigmented scars in adults
- Associated findings: MR, seizures, heart disease, delayed dentition and
peg teeth, ocular abnormalities
Characteristics:
- Skin
vesiculation
- verrucous
changes, atrophy, irregular gray/brown pigmentation
- Between birth and 6 weeks, a
linear vesicular/bullous
eruption appears on the trunk along lines of Blaschko, followed
within weeks by a warty/verrucous
eruption which might persist up to the age of one year
- The classical lesions of whorled
hyperpigmentation
evolve after this (between 3-10 months of age); they may fade in adulthood
leaving faintly
depigmented
atrophic streaks, especially on the legs
- some patients have had a recurrence of the vesicles up to 6 years of age
- nail dysplasia in 40%
- Dental anomalies: peg-shaped teeth
and hypodontia are common
- Atrophic patchy alopecia,
some may have breast aplasia
- Neuro: occasional mental deficiency, microcephaly, seizures
- 40% have eye complications:
Possible strabismus, uveitis, retinal detachment, occasional blue sclerae
- Osseus deformities:
hemivertebra, syndactyly, hemihypertrophy
- CBC frequently shows eosinophilia
Management:
- The stage 1 lesions should be left intact and kept clean
- No specific treatment available
- Referral to optho, dentistry and, if indicated, neurology
- Genetic counselling
Examine mother's skin and teeth for signs of the disorder and take a careful
history of neonatal vesicular eruptions
also see Hypomelanosis of Ito
CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes
E-medicine.com (last updated Feb 8, 2002)