Do you have cancer? (Alopecia Areata)

A lot of kids with alopecia areata get asked that question. Why else would a child be losing his or her hair?
Alopecia areata is an autoimmune skin disease where your lymphocytes attack your own hair follicles. This results in patchy loss of hair all over the body, including head hair, eyebrows, arms, and legs. It is usually a disease of childhood and presents as round patches of smooth hair loss. For most people, the hair grows back and another patch may appear somewhere else. Eventually, most kids grow out of it. But for some, it progresses to alopecia totalis (complete loss of head hair) or alopecia universalis (complete loss of body hair).

Treatments include topical or intralesional steroids, but these are not cures and do not have great efficacy rates.

Because AA is not known well among the public, this can be a difficult disease for kids and adults alike. There were a number of campers with AA last week, and they had lots of stories about being stared at in public, kids making fun of them, and people asking them if they had cancer. They discussed different hair accessories (like hats and bandanas) to cover up their heads. For this group of campers in particular, I think it is therapeutic to be around other kids like themselves and to talk about they're good days and bad days with AA.

The National AA Foundation has a great website, check it out.

Whole-body peel (Erythroderma)

Non-bullous, Congenital Icthyosiform Erythroderma (CIE) is caused by an autosomal recessive hereditary deficiency of an enzyme involved in skin regeneration. The mutated or missing enzyme varies depending on which type of CIE the patient has, but it always leads to a build up of thick, dry skin. Either the patients are regenerating skin too fast or they are shedding epidermal cells too slowly. The transglutiminase-1 gene, the 12R-lipoxygenase gene, or the lipoxygenase-3 gene may be affected.

The patients appear red with partially adherent white scales. They are at high risk for infection because of the fissures they get in the thickened skin. Also, the thick skin can make it difficult to move joints, to the point where patients can end up in wheelchairs because their skin is just too tight and thick.

This is an incredibly difficult disease for kids and their families to deal with. It requires diligence to keep the kids well-moisturized and clean, but also the emotional effects of this disease are huge. Essentially, these kids are always peeling. Their beds and clothes are peppered with scaled off skin. There is also an odor to the hyperkeratotic skin. Patients are prone to overheating and alopecia (loss of hair).

Unfortunately there is no cure. Patients can only treat symptomatically by moisturizing and keeping their skin as supple and clean as possible.

There seems to be a lot of research done on prenatal testing for CIE. Skin samples can be taken of the fetus that are then analyzed for hyperkeratosis, particularly around hair follicles. Parents have even terminated pregnancies based on the positive diagnosis. The study below found that it is difficult to judge the presence or absence of the disease based on skin samples for two main reasons: 1. the random sample may be from an area that is less affected (as was the case in one of their patients) and 2. normal epidermal growth does not occur until the 24th week, at the end of the 2nd trimester

Holbrook KA, Dale BA, Williams ML, Perry TB, Hoff MS, Hamilton EF, Fisher C, Senikas V.The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies.J Invest Dermatol. 1988 Dec;91(6):521-31.

OMIM has a nice summary of the disease.

A world without sun (Xeroderma pigmentosum)

Xeroderma pigmentosum is a hereditary deficiency in part of the nuclear repair enzymes, inhibiting the body's ability to repair damage caused by UV rays. UV rays cause pyrimidine dimers to form in our DNA and endonucleases, DNA polymerases, and ligases work to repair the damage. If any of these enzymes are decreased, ineffective, or all together missing, the DNA will not be repaired properly. Increased DNA mutations lead to increased risks of malignant growth.

This past week I had the chance to hang out with a kid who has XP and take a small glimpse into her world. She spends all of her time between 7 AM and 8 PM in doors. If she had to go outside, she would suit up in a jacket, jeans, close-toed shoes, gloves, and a hat/hood that looked like a bee keeper's hood but it was opaque. In the 90+ degree heat, this was less than comfortable. She was diagnosed as a baby when, after 10 minutes outside in the shade, she was severely sunburned. Ever since then, she has lived in this inside world. I can't imagine it is easy being a kid with all that pent up energy and not being allowed to run around outside or play with the other kids. But it is a necessity. These kids can get skin cancer from a very young age and the only protection is UV avoidance.

Wikipedia has a nice list of literary and film references about people with XP. Also, the XP family support group has tips on how to protect yourself against UV damage. From special clothes to window tints to avoiding sun at airports, theme parks, etc, the support group has lots of interesting strategies for avoiding the sun.

CAMP

I was a camp counselor for a group of kids with skin disorders last week (hence the lack of posts). As an ode to my campers, I'm going to do a few days of posts dedicated to their skin conditions and address how these conditions have affected their lives. Middle school is a tough time as is, but when you have a disease that everyone can see, a tough time can become tougher. These girls are remarkably mature, caring, and sensitive, and it was a pleasure getting to know them.

I think people would be less judgmental if they understood what kinds of conditions kids like these have, and hopefully this series of posts will bring together some useful information and helpful links.

Pets as Staph carriers

Many studies have been done showing that dogs, cats, and horses can be colonized or infected with methicillin-resistant staph aureus (MRSA).

Here are some definitions:
1. colonized- one carries the bacteria, but doesn't have any adverse effects from it. it just lives benignly usually in the nose or other mucosal surfaces
2. infected- the bacteria is causing adverse effects

MRSA is particularly dangerous because it is often resistant to multiple antibiotics and can be hard to treat. It is spread easily through hospitals and the community. And apparently, it can be spread via pets.

From what I've read, it looks like dogs and cats can pick up human strains of MRSA from their owners and either be colonized or infected. They can then pass the bacteria back to humans they contact (licking, petting, rubbing noses). What makes this particularly dangerous is that there are genes in bacteria that allow them to be resistant to different antibiotics. For example, the mecA gene makes Staph aureus resistant to methicillin. Well, these genes can be transferred from one bacteria to another. Dogs' natural flora includes Staph intermedius, which has been shown to have a high resistance to multiple drugs. And if dogs are harboring all these bacteria, they can breed MRSA strains that are resistant to multiple antibiotics, transfer them to humans, and make an infection that is very difficult to treat.

(There's no reference here because hopefully I'll be able to add the paper I'm working on as a reference when it's done :)