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"Confetti Skin, Beauty Within" is our blog about ichthyosis and its effect on our lives. Rachel and our three boys are affected with the form of ichthyosis called "icthyosis en confetti, type 2".

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Here's our summary of our best and most important posts of 2012.

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Genetics Part 5: Dominant Inheritance

The most common and some of the very rare types of ichthyosis are inherited in a dominant fashion. This means that only one copy of the gene is needed for the disorder to appear. There are 2 ways to inherit this sort of disorder: either your parent is affected and you drew the short straw [...]

Jennifer’s “Lesson in Basic Genetics” at Mahwah, NJ

When she attended the FIRST regional conference in Mahwah, NJ last weekend, Jennifer chatted with FIRST’s Communications Director, Maureen Neville, about basic genetics. Maureen blogged about that conversation and Jennifer’s illustration is now on Youtube. Take a look!

There are some additional great tidbits from the Mahwah conference (including product suggestions from [...]

Genetics Part 3: X-linked Ichthyosis

Every person has 23 pairs of chromosomes in every cell. Chromosomes are long strings of DNA that get copied into proteins to make your body run. 22 of them are called autosomal chromosomes, which means that they are matched pairs. The remaining pair is the sex chromosome. Typically, females have 2 X chromosomes, while males [...]

Prenatal Screening for Ichthyosis

One often-asked question we hear in various ichthyosis support groups is about prenatal screening for ichthyosis. If these disorders are so severe, why don’t we test for them?

I can think of five separate answers.

1. Compared to other genetic disorders, only a few children are affected with ichthyosis. 2. There are no ethnic risk [...]

Life with Harlequin Ichthyosis: The Science Behind Harlequin Ichthyosis

If you type the word “ichthyosis” into your favorite search engine, the first page of results offers up a list of respected medical websites, charities and the long standing forum for families. And it turns out that when people are searching on Google for “ichthyosis”, almost half of the time they are looking for information [...]

Genetics Part 2 – Recessive Inheritance

Most rare types of ichthyosis are recessive. Recessive genes are genes that requires two copies, one from each parent, in order to make them show up. A person with only one copy of a recessive gene is called a carrier, and would have the same appearance as someone with two copies of the dominant version [...]

Genetics Part 1 – What’s a Gene, Anyway?

One of the most common questions that I see about ichthyosis is, “If I have another child, will he or she be affected, too?” The other winner in the common question derby is, “What kind of ichthyosis do I have?” Both questions ultimately come down to genetics.

So…what’s a gene?

A gene is a short [...]

Ictiosis afecta muchas personas en un pueblo pequeño en Veracruz: El efecto fundador

La última semana, nos enteramos de algunas noticias acerca de ictiosis en un pueblo rural y montaña en México, Soledad Atzompa. Hay allí un increíble número de personas que se ven afectadas por ictiosis. Abunda la información al respecto y todos casos similares. Se informa similar situación en la comunidad de Nogales, a unos 14km [...]

Dozens of cases of ichthyosis in a tiny Mexican town: The Founder Effect in action

Last week, we learned about several news articles about icthyosis in a tiny, rural mountain village in Mexico, Soledad Atzompa. There are an astounding number of affected people in a very small region. There are also several other articles regarding the situacion and all have similar information. There is more coverage about the town of [...]