The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can
be inherited or acquired, and result in defective keratinocyte differentiation and abnormal …

BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically
heterogeneous group of mendelian disorders of cornification, typically involving the entire …

Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin,
scaling and hyperkeratosis, and often associated with erythroderma. These manifestations …

Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different
genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms …

Skin is at the interface between the complex physiology of the body and the external, often
hostile, environment, and the semipermeable epidermal barrier prevents both the escape of …

Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has
illustrated the power of genetic strategies for the investigation of newly recognized metabolic …

Ichthyoses constitute a large group of cornification disorders that affect the entire
integument. The skin is characterized by visible scaling and in many cases by inflammation …

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare
disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis …

Infants born with autosomal recessive congenital ichthyosis (ARCI) are often encapsulated
in a collodion membrane, which shows a lamellar or erythrodermic type of ichthyosis upon …

The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare
disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was …