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Incontinentia pigmenti

Incontinentia Pigmenti (IP) is a genetic disorder that affects the skin, hair, teeth, and nails. It is also known as Bloch Sulzberger syndrome, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus. more...

ICF syndrome
Ichthyosis vulgaris
Imperforate anus
Inborn error of metabolism
Incontinentia pigmenti
Infant respiratory...
Infantile spinal muscular...
Infective endocarditis
Inflammatory breast cancer
Inguinal hernia
Interstitial cystitis
Iodine deficiency
Irritable bowel syndrome

The skin lesions evolve through characteristic stages:

  1. blistering (from birth to about four months of age),
  2. a wart-like rash (for several months),
  3. swirling macular hyperpigmentation (from about six months of age into adulthood), followed by
  4. linear hypopigmentation.

Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing to retinal detachment in early childhood. Cognitive delays/mental retardation are occasionally seen.

The diagnosis of IP is established by clinical findings and occasionally by corroborative skin biopsy. Molecular genetic testing of the IKBKG gene (chromosomal locus Xq28) reveals disease-causing mutations in about 80% of probands. Such testing is available clinically. In addition, females with IP have skewed X-chromosome inactivation; testing for this can be used to support the diagnosis.

IP is inherited in an X-linked dominant manner. IP is lethal in most, but not all, males. A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. Parents may either be clinically affected or have germline mosaicism. Affected women have a 50% risk of transmitting the mutant IKBKG allele at conception; however, most affected male conceptuses miscarry. Thus, the expected ratio for liveborn children is 33% unaffected females, 33% affected females, and 33% unaffected males. Genetic counseling and prenatal testing is available.

This disorder was first reported by Bruno Bloch, a German dermatologist in 1926 and Marion Sulzberger, an American dermatologist in 1928.


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Family fights seizures
From Topeka Capital-Journal, The, 8/13/04 by Barbara Hollingsworth Capital-Journal


ONLINE: Hear Matthew Pressgrove's father discuss his son's illness and find expanded coverage of the disorder.


Family and friends are having various fund-raisers for Matthew Pressgrove, who suffers from a rare chromosome disorder that has caused seizures. He is to be evaluated for brain surgery in September. Upcoming events to raise money for the family include:

Matthew Pressgrove Benefit Golf Tournament: Tee time is 8:30 a.m. Aug. 30 at the Western Hills Golf Course, 8533 SW 21st St. The fee for a four-man scramble team is $200; register by Aug. 23 by calling the Pressgroves at 925-2869 or 925-0223.

Matthew Pressgrove Benefit Co-Rec Softball Tournament: Games will be played from 8 a.m. to 8 p.m. Aug. 21 at the Shawnee North Community Center. The fee is $140 for a team. Call Ryan Schwisow at 230-1120 or Scott Manderino at 224-7756 for information. The registration deadline is today.

By Barbara Hollingsworth


Seven-year-old Matthew Pressgrove curled up under a knit blanket, wiped out from one of the seizures he endures each day.

Nearby, his protective big brother, Taylor, 8, sister, Abby, 3, and neighbor Tiarra Wells, 10, decorated a sign advertising their cucumber sale they hope will bring in big bucks for Matthew's "sergere," or surgery.

"We were getting these fund-raisers going, and they decided to do something on their own," said Matthew's dad, Mike Pressgrove.

The kids did pretty well: $51 just in cucumber sales. Other efforts --- including a golf tournament and softball tournament later this month --- also will help the family, which has been loaded down with travel expenses to visit specialists and Matthew's costly medical treatments, including the deductible they must pay before insurance coverage kicks in.

"Anything to help out a friend is kind of my mentality on that," said Ryan Schwisow, who with his wife, Jennifer, is organizing the softball tournament at the Shawnee North Community Center. "It's an expensive task when you're looking at what they're going to have to go through and what they have gone through over the last year."

Matthew was born with a chromosome disorder --- Incontinentia Pigmenti --- that in boys often leads to a stillbirth, said Dr. Heather Rainwater, a pediatrician who has treated Matthew. For Matthew, the disorder has meant lots of seizures, pokes and prods in hospitals and surgeries.

Seizures began the day after his birth, and he spent most of the first two years of his life in hospitals, his parents said. The disorder has varied. For about three years the seizures --- or at least their noticeable effects --- subsided. Then they returned.

In April, doctors put a device in Matthew's chest that regularly stimulates a nerve in his neck in an attempt to reduce the seizures. He still has days with as many as seven seizures. When Matthew has one, his parents use a magnet they carry with them at all times to further activate the device.

Since the surgery, his parents said the seizures have reduced in number but seem more intense.

Matthew's dad said the troubles have been persistent.

"Every time you think you get somewhere," he began, "Something else happens," Sonja Pressgrove finished.

"He just doesn't get a break," Mike added.

The next step may be brain surgery to remove what might be causing the seizures. In September, Sonja Pressgrove plans to travel to Cleveland with Matthew for an evaluation.

"He asks all the time, he says, 'What is wrong with my brain mom?' " she said. "What do you say to that? We're trying to fix that."

Matthew faces many challenges as he grows up, including developmental delays, although he will be in first grade at Lyman Elementary.

"I think it's a real challenge for his family, and they do an absolutely wonderful job of taking care of him," Rainwater said. "He's a really delightful boy. They work really hard to make sure he has the most wonderful life and does the best job he can of growing and developing."

After a seizure earlier this week, Matthew took about an hour to slowly wake up. Finally, talk of a trip to the park enticed him to get up, and he rolled over the side of the coach --- slap-stick comedy style. Suddenly, he seemed more like a 7-year-old than a child who has spent so much time in a hospital.

Matthew loves Spiderman and sports a Spiderman T-shirt and shoes. He loves playing outside --- although he overheats quickly because his sweat glands don't work --- and he recently learned to pump his legs so he could fly higher while swinging. All the time, older brother Taylor, keeps a watchful eye on Matthew.

"He's pretty happy for everything he goes through," Sonja Pressgrove said.

Because of seizures, Mike Pressgrove said Matthew is taking a host of medications that make him irritable at times.

"If we can get all this done, he may be able to get back to normal life," he said.

Barbara Hollingsworth can be reached at (785) 295-1285 or



Matthew Pressgrove, 7, pumps his legs to swing higher at Garfield Park. Pressgrove has a rare chromosome disorder he has battled since birth. His family and friends have put together golf and softball tournaments to raise money for medical expenses.

The Pressgrove family, from left, Abby, Mike, Taylor, Sonja and Matthew, pose for a picture together at Garfield Park.

Please see FIGHTS, Page 2B

Continued from Page 1B

Fights: Brain surgery

may be next step

Copyright 2004
Provided by ProQuest Information and Learning Company. All rights Reserved.

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