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Incontinentia pigmenti ( I P )

Other names – Bloch Schulzberger syndrome

                        Bloch Siemens syndrome

I P is a distinctive syndrome transmitted hereditary in females.  It is seen as a syndrome of clinical signs affecting the skin, eyes, skeletal system and central nervous system.

Aetiology

The condition is X linked and is lethal for males while it is manifested in females.  Many female relatives  in a family may show few features only.  Very  rarely it may be seen in males due to spontaneous mutations of X chromosome.

Clinical signs

Three stages are seen

1. Bullous stage
2. papular and warty stage
3. pigmentation (color changes)

The stages are not in the order they appear and may overlap each other.  Some of the stages can appear in the uterus so that when the child is born only the color changes remain.

1. Tense blisters containing clear fluid develop over the body and limbs.  These continue to appear for 2 months or so.
2. These are then followed by multiple bluish red nodules or plaques warty in appearance over the limbs. 
3. The next  stage is the color change.  There are many areas of bizarre blackish pigmentation over the body and limbs.  It has been described as “splash” or “Chinese figure” distribution.

The color changes may be blackish or even white (hypopigmented)

The hair is normal but in some patients there may be scar like areas with hair loss on scalp.

Defects in the eye :-

Many patients can be blind.  There may be cataracts, problems with the retina and the eyes may be small.

Defects in the teeth

Delayed growth of teeth, partial absence of teeth, cone shaped teeth are noted commonly.  Some relatives may only have the teeth defects and may be otherwise normal.

Defects in the central nervous system

Mental retardation, slow development, epilepsy may all be seen.

Treatment

No treatment is needed apart from treating infection if  the blisters get infected.  Dental work will be needed to maintain self esteem.  Genetic counseling is invaluable and must be offered.