Congenital ichthyosis

Used for

Harlequin fetus, Harlequin type ichthyosis, ichthyosis congenita, lamellar ichthyosis

See for

Sjogren Larsson syndrome

Broader Terms

congenital skin disorder, genetic disorder

Related Terms

keratosis

Scope Note

skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis that exist at, and usually before, birth regardless of their causation; most ichthyoses are genetically determined.

Facts

• Ichthyosis is a heterogeneous family of at least 28[1], generalized, mostly genetic skin disorders. The symptoms include dry, thickened, scaly or flaky skin.
• Congenital ichthyosis is an autosomal hereditary disorder affecting both males and females.
• Congenital ichthyosis is a clinically and genetically heterogeneous group of disorders of keratinization.
• Autosomal recessive congenital ichthyosis is inherited in an autosomal recessive manner.
• Congenital ichthyosis is characterized by massive hyperkeratosis all over the body, whereas epidermolysis bullosa (EB) goes with blistering and skin fragility.
• Apart from the four common types, congenital ichthyosis is known to occur in a number of genetically determined syndromes ('complex ichthyosis' or 'rare ichthyosis').