ichthyosis
Pronunciation: ik-thee-OH-sis
A group of inherited disorders characterized by dry, scaly skin resembling fish scales due to abnormal keratinization.
Full Definition
Ichthyosis encompasses a heterogeneous group of inherited keratinization disorders characterized by generalized scaling and dryness of the skin. The most common form, ichthyosis vulgaris, is caused by filaggrin gene mutations and presents with fine, white scales predominantly on the extensor surfaces of extremities. More severe forms include X-linked ichthyosis and congenital ichthyosiform erythroderma. Management focuses on aggressive moisturization and topical keratolytics to improve barrier function and quality of life.
Usage
Usage note: Specify the subtype of ichthyosis when known (e.g., ichthyosis vulgaris, X-linked ichthyosis).
In Context
- "The newborn's severe scaling suggested a congenital form of ichthyosis requiring genetic evaluation." — Neonatal consultation
- "Daily application of urea-containing emollients improved the child's ichthyosis significantly." — Treatment response note