Find Us On Facebook
Follow Us On Twitter
"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".

Read more about us and this blog...

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

Recent Comments

Glossary

Bullous. — blisters

Calcification – depositing calcium in unusual places, causing bone spurs and other problems.

Carrier — a person with one copy of a recessive trait that does not actually show the disorder.

Collodion membrane – a shiny layer of skin that looks similar to kitchen wrap covering all or part of a newborn. It peels a few weeks after birth. Severe membranes can constrict breathing in a Harlequin newborn and is life-threatening.

Dermatitis — inflammation of the under laying layers of the skin.

Dermis — the part of the skin under the epidermis. This is where the nerves, hairs, sweat glands and oil glands are.

Dominant — only one copy of the gene is needed to have a trait. Tagged as a capital letter such as A.

Eclabium – the skin around the mouth dries and tightens, pulling the mouth out into a pucker. Usually seen in newborn Harlequin infants, but sometimes in collodion babies as well.

Ectropion — the skin of the lower eye dries and tightens, pulling the eyelid down so that the red part is exposed. Some people have a similar problem with the upper eyelid as well. The eye does not close completely and left untreated can cause corneal erosion and damage to the eyesight.

Epidermis — the surface portion of the skin, which has 5 layers, called strata. The topmost layer is the waxy, dead skin barrier called the stratum corneum. The bottom layer is where skin stem cells are.

Erythroderma — red skin

Genotype — whether you have two dominant, two recessive or one of each copy of a particular gene.

Heterozygote – you have one dominant and one recessive copy of a gene, such as Aa.

Homozygote – you have 2 copies of the same gene, such as AA or aa.

Keratin — the waxy molecule that makes your skin water resistant and the white part of your eyes.

Keratin bodies – little globs inside skin cells that contain keratohyalin or keratin

Keratinocytes — cells that make keratin

Keratitis — inflammation in the keratin layer

Keratohyalin – a molecule that is present in big black dots underneath the top layer of skin. It splits into keratin and hyalin and ultimately makes the outer layer of the epidermis water resistant.

Nevi/nevus — a spot or area on the skin that is different than the rest of the skin, such as a mole or a skin cancer lesion or a white spot. Nevi is plural, nevus is singular.

PCR – a genetic technique where a gene is replicated thousands of times and then broken into small pieces and fed through a gel to make them line up in order. A fluorescent dye is added so they can be seen and read.

Phenotype — what a person looks like. (affected or not affected with a trait)

Prickly itch – a feeling where the deeper parts of the skin are crawling and surface scratching does not relieve the feeling. Thought to be caused by blocked sweat glands or possibly by skin bacteria waste accumulating in the epidermis.

Pruritis — itching

Retinoid — a steroid medication that works by sloughing off the top dead skin layer.

Recessive — two copies of a gene are needed to have a trait

Sequencing. — copying a strand of DNA hundreds of times, then cutting it into pieces, then forcing it to filter through a gel so that the different pieces line up by size. Dye is used so you can see the order of the DNA and from there work out where a mutation is or if an individual is related to a particular person.

Shearing DNA — taking a gene and breaking it into protein-coding parts and filler.

Subdermis – the bottom layer of the skin, mostly fat, that insulates the body from heat loss.

Sweat — water lost through the sweat glands, which are turned on and off by the temperature of your body.

Toxicity — how poisonous something is

Transdermal water loss — water lost via evaporating from the skin and underlying blood vessel at a fairly constant rate. This is not sweat.