Incontinentia pigmenti is a rare genodermatosis also called Bloch-Sulzberger syndrome or Bloch-Siemens, that shows early at birth or in the neonatal period.In its classical form,the cutaneous symptomatology develops through three steps.
1st step, with evidence of injuries, of erythematic-vescicular-blistered kind and one wave after another, linearly positioned and involving upper body and limbs;haematic hypereosinophilia is also present.
2nd step, that pops up between the second and the sixty life-week with papulo-lichenoid injuries,hyperkeratosic and warty, looking as elongatad striae in the distal limbs section ( knee, foot-and hand back ).
3rd step, when at third-sixth month of life dark pigmented spots appear at the upper body level, positioned like a vortex, a whirl or spurts.
Such chronology may be different form from the above and furthermore the relationship among the injuries sequence has not been already explained.
In its achromating form,incontinentia pigmenti is known as "Ito disease". Incontinentia pigmenti is linked, in 80% of occurrencies, to other anomalies:
- Neurological anomalies in 30% of occurrencies, with motor-spastic involvment, convulsions, intellective impairment.
- Ocular anomalies in 35% of cases, with 7,5 of induced blindness ( cataract, retinitis, uveitis, optic nerve atrophy ).
- Dental anomalies in 65% occurrencies.
- Alopecia 38% of cases.
- Onychodystrophya 7% of occurrencies.
Late studies in molecular genetics identified the origin of incontinentia pigmenti in the failure of a gene named NEMO, placed on X-chromosome. Therefore, while the genetic mutation - in its very evident form - turns out to be fatal to the male foetuses (that do not reach full-term), on the other hand the presence of two X-chromosomes in the females seems to drive to survival and to the disease emergence. (Abstract).
Prof. Camillo O. Di Cicco, MD
Presented to "3td EUROSKIN Conference - Stockholm, Sweden".