1. Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)
Mackenzie Howard

2. Incontinentia Pigmenti
A genetic disorder in which affected individuals have discolored skin, neurological problems, slow motor development, muscle weakness, visual and dental problems.
IP is also listed under the name Bloch-Sulzberger Syndrome, which are the men who discovered the disease in 1928.
There is not a lot of information known about IP because it had not been studied too much until recently (2008, June). IP is so rare only approximately 1200 individuals have ever been diagnosed with the condition (2005, February).

3. X Chromosome
Researchers have found that IP is a dominant X-linked disease.
A woman has two sex chromosomes X and X. If she has IP it is because one of her X’s is mutated and because IP is a dominant trait she shows the characteristics of the disease.
When the woman has a child she passes off half of her genetic information. Therefore, for each pregnancy there is a 50-50% she will pass the disease on to her children.

4. X Chromosome
If the woman has a daughter it is probable half will be unaffected by IP and the other half will be affected. It is the same odds if she has boys.
The difference with boys is that a boy with IP cannot live. Since males have an X and a Y, if a male were to inherit the abnormal X gene there is no other X for it to have a normal copy of genes so therefore they die.
Most women who have IP and have a miscarriage it is because they were having a boy and the fetus couldn’t survive with an affected X gene. In some cases, women carry the child to full term but deliver a stillborn boy because males cannot survive with IP (Emmerich, 2003).

5. Incontinentia Pigmenti
The main effect IP has on the body is the skin condition.
It occurs in 4 different stages.

6. Stage 1 The first stage is called the erythematous stage.
It consist of redness and blisters and can be found anywhere on the body.
This can appear as soon as birth or up to two weeks later.

7. Stage 2 The second stage is the verrucous stage.
In this stage the person has warts covering the blisters and usually lasts for several months.
(Lehrer, 2006)

8. Stage 3 The third stage is the hyperpigmented stage.
This is when the swirls begin to form.
It usually appears between the ages of six months and twelve months.

9. Stage 4 The fourth stage is the atrophic stage.
During this stage the skin appears to scar. The area affected is pale and will not contain hair.
While the warts dry up and fall off, the streaks and swirls only fade and will be with the individual their entire life.
(Hill, 2008)

10. Other Symptoms
The most common eye condition associated with IP individuals is the abnormal growth of blood vessels on the retina of the eye.
More than 80% of those affected with IP have dental problems. The problems can affect the baby and adult teeth. Some of the problems include teeth coming in late, missing teeth, and cone shaped teeth.
Neurological disorders include seizures, paralysis, developmental and mental retardation.

11. Incontinentia Pigmenti Teeth

12. Support Groups
An unfortunate side effect of IP is a sense of loneliness and depression. The depression is not caused by a chemical imbalance but by the fact that many people have never heard of their condition, many doctors have never seen it, and so there aren’t any real support groups.
There are only six support groups worldwide; one is here in the United States in New York

13. Incontinentia Pigmenti
Currently there is no treatment or cure for the mutated gene.
The only thing that can be done is to treat the individual symptoms. The skin conditions tend to fade by adolescence, glasses can be worn for any eye sight problems, and medication can usually control the neurological conditions.
The prognosis for an individual with IP is a relatively normal life. As more research is done on sex linked diseases more information and possible treatment and prevention may be found. Until then, individuals with IP have to deal with unknown and rareness of their disease.

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19. Resources Used
(2005, February). Incontinentia Pigmenti Information Page. Retrieved July 23, 2008, from National Institute of Neurological Disorders and Stroke Web site: htm
(2008, June). Incontinentia Pigmenti . Retrieved July 24, 2008, from National Library of Medicine Web site:
Emmerich, S (2003, August). Support Groups. Retrieved July 23, 2008, from National Incontinentia Pigmenti Foundation Web site:
Emmerich, S (2003, August). Incontinentia Pigmenti. Retrieved July 23, 2008, from National Incontinentia Pigmenti Foundation Web site:

20. Resources Used
Lehrer, M (2006, April). Health Topics: Incontinentia Pigmenti. Retrieved July , from About.com Web site: hics/images/en/2860.jpg&imgrefurl= ncontinentia-pigmenti-on-the-leg.htm
Hill, Mark. (2008) au/Defect/images/CutisAplasiaKeloid.jpg
Incontinentia Pigmenti. Retrieved July 25, 2008, from Dermatology Information System Web site: er/CD054/550px/img0021.jpg