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Darier's disease

Darier's disease is a genetic disorder discovered by a French dermatologist Ferdinand-Jean Darier. Darier's disease is known because of dark crusty patches on the skin, sometimes containing pus. The crusty patches are also known as keratotic papules and also called keratosis follicularisis.

The disease is hereditary and dominant. It affects both men and women and is not contagious.

With the discovery of the ATP2A2 gene, performing genetic tests to confirm the diagnosis of DD is now possible.

This is one of the three skin diseases discovered by Darier.

Dandy-Walker syndrome
Darier's disease
Demyelinating disease
Dengue fever
Dental fluorosis
Dentinogenesis imperfecta
Depersonalization disorder
Dermatitis herpetiformis
Dermatographic urticaria
Desmoplastic small round...
Diabetes insipidus
Diabetes mellitus
Diabetes, insulin dependent
Diabetic angiopathy
Diabetic nephropathy
Diabetic neuropathy
Diamond Blackfan disease
Diastrophic dysplasia
Dibasic aminoaciduria 2
DiGeorge syndrome
Dilated cardiomyopathy
Dissociative amnesia
Dissociative fugue
Dissociative identity...
Dk phocomelia syndrome
Double outlet right...
Downs Syndrome
Duane syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
Duchenne muscular dystrophy
Dupuytren's contracture
Dyskeratosis congenita
Dysplastic nevus syndrome


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Darier's disease
From Deseret News (Salt Lake City), 1/29/04 by Lois M. Collins Deseret Morning News

Nicole Spendlove is compulsive about her hygiene, showering as many as three times a day, then slathering herself with lotion.

She stays out of the sun, though previously she adored being outdoors, whether hiking or skiing or playing with friends at the beach.

And by nature she's a social creature, but she finds herself avoiding crowds, particularly if she doesn't know many people.

Those are just a few of the ways that Darier's disease, a rare genetic disorder, has turned her life upside down.

The condition is generally believed to be an autosomal disorder, which means that if one parent has the gene, a child has a 50 percent chance of inheriting it.

Darier's usually shows up in the teens or 20s. Spendlove was 15 when it appeared.

Still, not everyone who carries the gene has the resultant skin disorder, which can be so subtle that only careful inspection shows it, to so extensive that the resulting lesions cause distress and misery. No one else in Spendlove's immediate family, including her parents, has any clear symptoms of the disorder.

Spendlove, of St. George, finds herself in the group made miserable by Darier's. It appears almost like hives on her back and chest, her face, even her arms and legs. It's like a rash, says Spendlove, but not like a rash.

A student at Utah State University studying elementary education, the 25-year old is taking a semester off from school to try to conquer the disorder that has wreaked havoc on her health and her self-image.

The skin lesions from Darier's often include chronic greasy, scaly, little bumps that tend to cover the face, neck, chest and back. It also shows up in the skin folds, like in the armpits.

One some people, the lesions are flat and freckle-like. On others, they are large, warty patches. The bumps may be yellowish, or they may look more reddish or skin-colored. Sometimes people with Darier's develop a pimply rash that includes small bumps containing pus.

Skin affected by Darier's itches. And it hurts. It is prone to bacterial infection, which can make it more painful and cause more itching. Some people with Darier's develop an offensive odor that's hard to control. Excessive bathing can help with that, but it increases the itching and misery. The same form of herpes simplex that creates cold sores can infect Darier's skin lesions. Barring the presence of infection, though, Darier's disease patients generally have pretty good health.

Spendlove estimates she spends as much as $700 a year on prescriptions, including creams, which work inconsistently if at all.

It's not clear what causes some people with the Darier's gene to develop symptoms and others not to; it's also not clear what should be done to treat it, though dermatologists have tried many approaches with different degrees of success depending on the individual and that person's symptoms. Several medical Web sites suggest that the disease quite likely disrupts the normal manner in which skin cells link together.

It's all very frustrating, said Spendlove.

"It's turned my world upside down," she said, during one of her recent, frequent trips to Salt Lake City to see her dermatologist. "Being outdoors is what I have a passion for outside of scholastic activities. But being in the sun exacerbates my disease and so does water, to a certain extent, so I have become much more reclusive. I have had to learn different social groups that I do not always have a lot in common with, and I miss the outdoors," she said.

"It has affected my confidence to a large degree, though I don't think I base my confidence on appearance. But people are not discreet about staring. They ask questions and are not always nice about it. It wears me down. I try not to let it; I feel I make the best of it, but it has affected me."

For a long time, Spendlove was on Accutane, a prescription medication generally used for severe acne, but she stopped it because long-term use may have health ramifications. She's tried cryosurgery but suffered "complete loss of pigmentation" with that. She's seen a number of doctors, but Darier's is uncommon enough that many she consulted were neither expert in its treatment nor particularly interested, she said.

She's done a lot of her own research and over the past two years has become more serious about how to approach the disease. Her research into laser treatment led her to Dr. Paul Harrison in Sandy. He's already done two test sites on her back, using laser ablation to remove skin, lesions, etc., to the desired depth. The results so far look promising. But he's taking a cautious approach and has done more than a dozen skin biopsies to check the depth of the skin layer in various areas to ensure that he doesn't ablate too much or too little.

His approach has put Spendlove at ease. "He's very progressive, but rational," she says. "He's invested his personal time in understanding and researching Darier's, and he's been seeking out other doctors" with experience treating the disease.

When he did a test patch, about 1 inch wide and 2 inches long, in August, Spendlove and her mother, Tina, stayed in Salt Lake for a while so she could have a follow-up almost every day. Since then, they've come back once a month for checkups. She was going to have the laser ablation on her back last week, but she got an infection so the procedure was delayed until Valentine's Day. Infection seems to be a fact of life with Darier's, she said.

Harrison took the 16 biopsies a couple of weeks ago, because laser is not usually used over such an extensive area or on someone with Darier's disease. The epidermis has different thicknesses, he said. The biopsies allowed him to measure the thickness and then have the biopsy examined by a pathologist to help Harrison determine how much he should remove in each spot.

"It's a cutting-edge, experimental" treatment, Harrison said. There has been worry that the Darier's will show up again in the hair follicles, but four months after the test sites were ablated, the skin there looks wonderfully normal.

When Harrison does her back, it will be a little like having a burn injury; hence the special care, Spendlove says. They will do it one body section at a time to avoid shock. After the back heals, if all goes well, Harrison will use laser ablation on her chest, neck and face, allowing complete healing before moving onto each new area, four to six weeks apart.

There are no plans to use laser ablation on her legs and arms because of increased potential for scarring, she said.


Copyright C 2004 Deseret News Publishing Co.
Provided by ProQuest Information and Learning Company. All rights Reserved.

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