A glossary of ichthyosis-related terms

Acrokeratosis verruciformis
Presence of numerous flat, wartlike papules on dorsal of hands, feet, knees, elbows

Alopecia
Loss of hair

Alpha-hydroxy acids (alfa hi-drox-ee)
Weak acids found in nature in sugar cane (glycolic acid), sour milk (lactic acid), and fruits (citric acid).  These acids, used widely in skin care products, are synthetically produced.

Amniocentesis
A procedure using a needle to draw fluid from the sac surrounding a baby in the womb.  The fluid contains cells and biochemicals that are tested for a variety of conditions that may affect the baby.

Ataxia
Failure of muscle coordination

Atopic dermatitis
A chronic inflammatory skin condition that is characterized by extreme itching, leading to scratching and rubbing that, in turn, creates the lesions of eczema

Autosomal
A gene that is carried on one of the 22 human chromosomes that do not determine sex

Barrier repair formula
Skin care products that help the skin absorb and hold on to water.  Most contain high concentrations of oils.

Bulla
Elevated lesion on the skin containing fluid

Carrier
A person who carries a recessive gene for a trait (like blue eyes) or a disease (like ichthyosis) on their chromosome.  The person does not display the trait or disease.

Ceramides (ser-a-mides)
Ceramides make up most of the oils found in the skin which help to hold skin cells together in a firm smooth structure.  They act like "cellular cement." Ceramide products contain phospholipids, cholesterol, or linoleic acids.

Chorionic villus sampling (CVS) (core-ee-on-ic-vil-us)
A procedure used to diagnose certain birth defects in the first trimester of pregnancy.  A catheter is inserted through the cervix and a small amount of tissue is taken from the placenta.

Collodion membrane (co-load-ee-on)
A clear membrane (sometimes having a shellacked appearance) which may cover the bodies of some babies at birth and is then shed within a few days to a few weeks.

Congenital (con-jen-i-tal)
Congenital means "present at birth."

Contractures
Shortening and thickening of a functioning muscle or fiber. A bending of a joint (fingers, elbows, knees) caused by tight skin.

Cornea
The clear covering of the eye.

Cryptorchidism
Undescended testes, failure of one or both testes to descend into the scrotum.

Deficiency (dee-fish-en-see)
Not having enough of something.

Dehydroepiandosterone (dee-hi-dro-epee-an-dos-ter-own)
A hormone found in pregnant women.

Desquamation
To peel off in the form of scales

Dominant
Exerting genetic dominance. A gene that causes a dominant trait such as brown eye color.

Eclabium (eh-clab-ee-um)
Turning out of the lips due to tightness of the skin.

Ectropion (ek-trope-ee-on)
Condition when the skin around the eyes pulls so tightly it causes the eyelids to turn outward.

Emollient (em-mol-ee-ent)
Skin lubricants, usually petroleum or lanolin based. A softening or smoothing product.

Epidermis (ep-i-derm-is)
The outermost layer of the skin.

Erythroderma (ee-rith-row-der-ma)
Abnormal redness of the skin

Etretinate (eh-tret-in-ate)
A synthetic retinoid (synthetic Vitamin A) that helps to normalize the skin.

Failure to thrive
Chronic undernourishment in children

Fetoscopy
Examination of the pregnant uterus by means of a fiber optic tube

Genotype
The term that refers to the specific genetic composition or mutation

Humectant
A substance that promotes retention of moisture

Hypergonadism (hi-per-go-nad-is-em)
Abnormally increased function of the gonads

Hypernatremia (hi-per-nay-treem-ee-a)
High sodium levels in the blood

Hyperpigmentation
Abnormally increase pigmentation

Hyperproliferation of skin
Rapid skin turnover

Hypoplasia
Incomplete development of an organ or tissue

Ichthyosis (ick-thee-oh-sis)
A family of genetice skin disorders characterized by dry, thickened, scaling skin

Intolerance
Not able to be in certain conditions (like heat) or eat certain things.

Ipsilateral
Situated on or affecting the same side

Keratolytic (ker-a-toe-li-tic)
A product that helps loosen the outer layer of dead skin.

Keratinocytes
Skin cells

Lipids
Various fatty substances, which are thought to account for the skin’s impermeability to water

Lubricated (loo-bri-kate-ed)
To keep moist and slippery.

Malabsorption
Faulty absorption of nutrient materials

Micrognathia
Abnormal smallness of the jaw

Microorganisms (my-crow-or-gan-is-ems)
Microscopic organisms that cause infection, ie, bacteria, viruses or fungus.

Moisturizer
Products that help add water or other liquids to the skin.

Mutation
A sudden change in a gene.

Nevus
Relatively stable malformation of the skin

Occlusion suits
Plastic-like clothing used to seal moisture into the skin

Oral synthetic retinoids
Man-made versions of Vitamin A in pill form.

Palmoplantar keratodermas
Thickening of the palms and soles

Papule
Small, superficial elevation of the skin

Petrolatum (pet-ro-la-tum)
Mineral oil or petroleum jelly. Used as a base in skin care products.

Phenotype
The effect of a genotype on the individual, for example, the appearance of the skin in a person with ichthyosis

Photosensitivity
Increased sensitivity to light

Pruritus
Localized or generalized itching

Recessive Gene
A gene that causes recessive trait like blue eyes. A person has to have 2 recessive genes to display a recessive trait. Expressed only when the determining gene is transmitted by both parents.

Retinoids
A derivative of synthetic Vitamin A

Septicemia (sep-ti-seem-ee-ya)
Having bacteria or a fungus, or their toxins, in your blood.  Blood poisoning.

Sloughing off (sluffing off)
Shedding something

Stratum corneum (stra-tum core-nee-um)
The outermost layer of the skin that contains dead and shedding skin cells.

Subungal hyperkeratosis
Scale (debris) beneath the nail

Systemically (sis-tem-ik-lee)
Affecting or circulating through the whole body.

Systemic therapy
The use of drugs taken internally

Topical therapy
Treatments applied on top of the skin to the areas affected by the disorder

Torso
The area of the body from the neck to the groin. Does not included the arms and legs.

Trichorrhexis Invaginata
Condition in which hairs are split and feather-like

X-linked
Located on the X chromosome