Glossary of Terms

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

Amniocentesis
A procedure whereby amniotic fluid containing fetal cells is taken from the mother’s womb and analyzed

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
Relating to a chromosome other than a sex chromosome

Bulla
Elevated lesion on the skin containing fluid

Collodion membrane
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.

Contractures
Shortening and thickening of a functioning muscle or fiber

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

Desquamation
To peel off in the form of scales

Dominant
Exerting genetic dominance

Eclabium
Turning out of the lips due to skin tautness

Ectropion
Condition when the skin around the eyes pulls to tightly it causes the eyelids to turn outward.

Emollient
Skin lubricants, usually petroleum or lanolin based

Erythroderma
Abnormal redness of 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
Abnormally increased function of the gonads

Hypernatremia
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
A family of genetice skin disorders characterized by dry, thickened, scaling skin

Ipsilateral
Situated on or affecting the same side

Keratinocytes
Skin cells

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

Malabsorption
Faulty absorption of nutrient materials

Micrognathia
Abnormal smallness of the jaw

Nevus
Relatively stable malformation of the skin

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

Palmoplantar keratodermas
thickening of the palms and soles

Papule
Small, superficial elevation of the skin

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
Expressed only when the determining gene is transmitted by both parents

Retinoids
A derivative of synthetic Vitamin A

Stratum corneum
The top layer of skin

Subungal hyperkeratosis
Scale (debris) beneath the nail

Systemic therapy
The use of drugs taken internally

Topical therapy
Treatments applied externally to the areas affected by the disorder

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

X-linked
located in an X chromosome




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