Epidermolytic ichthyosis (EI), is a severe form of dry scaly skin, that initially presents with redness,

blister A blister is a small pocket of body fluid (lymph, serum, plasma, blood, or pus) within the upper layers of the skin, usually caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection. Most blisters are filled ...

s, erosions, and peeling in a newborn baby.

Hyperkeratosis Hyperkeratosis is thickening of the stratum corneum (the outermost layer of the epidermis, or skin), often associated with the presence of an abnormal quantity of keratin,Kumar, Vinay; Fausto, Nelso; Abbas, Abul (2004) ''Robbins & Cotran Pathol ...

typically develops several months later. Other symptoms include

itch An itch (also known as pruritus) is a sensation that causes a strong desire or reflex to scratch. Itches have resisted many attempts to be classified as any one type of sensory experience. Itches have many similarities to pain, and while both ...

, painful fissures, strong

body odor Body odor or body odour (BO) is present in all animals and its intensity can be influenced by many factors (behavioral patterns, survival strategies). Body odor has a strong genetic basis, but can also be strongly influenced by various factors, ...

, and absence of sweat. Symptoms vary in severity and extent of skin involvement. The two main types are divided into one involving palms and soles and the other without. EI is caused by a genetic mutation. The condition involves the clumping of

keratin Keratin () is one of a family of structural fibrous proteins also known as ''scleroproteins''. It is the key structural material making up Scale (anatomy), scales, hair, Nail (anatomy), nails, feathers, horn (anatomy), horns, claws, Hoof, hoove ...

filaments. The condition is rare, affecting around 1 in 200,000 to 300,000 babies.

Signs and symptoms

EI is a severe form of dry scaly skin, that initially presents with redness,

s, erosions, and peeling in a newborn baby.

typically develops several months later. Other symptoms include

, painful fissures,

, and absence of sweat. Symptoms vary in severity and extent of skin involvement. Complications include

infection An infection is the invasion of tissue (biology), tissues by pathogens, their multiplication, and the reaction of host (biology), host tissues to the infectious agent and the toxins they produce. An infectious disease, also known as a transmis ...

and joint problems. Affected newborns are particularly at risk of

dehydration In physiology, dehydration is a lack of total body water that disrupts metabolic processes. It occurs when free water loss exceeds intake, often resulting from excessive sweating, health conditions, or inadequate consumption of water. Mild deh ...

sepsis Sepsis is a potentially life-threatening condition that arises when the body's response to infection causes injury to its own tissues and organs. This initial stage of sepsis is followed by suppression of the immune system. Common signs and s ...

, and electrolyte imbalance.

Cause and mechanism

The condition is mostly inherited in an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

pattern. To a lesser extent, a recessive form exists. It is caused by genetic mutations in the genes encoding the proteins keratin 1 or keratin 10, resulting in disruption of the structure of the epidermis. * Keratin 1 is associated with the variants affecting the palms and soles. * Keratin 10 is associated with the variants in which these are unaffected.

Diagnosis

Diagnosis is by its appearance,

skin biopsy Skin biopsy is a biopsy technique in which a skin lesion is removed to be sent to a pathologist to render a microscopic diagnosis. It is usually done under local anesthetic in a physician's office, and results are often available in 4 to 10 day ...

, and genetic testing. The condition can be diagnosed via exam that reveals; generalized redness; thick, generally dark, scales that tend to form parallel rows of spines or ridges, especially near large joints; the skin is fragile and blisters easily following trauma; extent of blistering and amount of scale is variable.

Treatment

Treatment includes applying thick

moisturiser A moisturizer, or emollient, is a cosmetic preparation used for protecting, moisturizing, and lubricating the skin. These functions are normally performed by sebum produced by healthy skin. The word "emollient" is derived from the Latin verb ''mo ...

s. Other therapies include topical and oral

retinoid The retinoids are a class of chemical compounds that are natural derivatives of vitamin A or are chemically related to it. Synthetic retinoids are utilized in cosmetic formulations, clinical dermatology, and the treatment of some forms of cancer ...

s. These include topical N-acetylcysteine, liarozole, and calcipotriol. Bacterial colonisation of skin may be reduced by use of antibacterial soaps, chlorhexidine, and dilute sodium hypochlorite baths.

Research

Gene therapy Gene therapy is Health technology, medical technology that aims to produce a therapeutic effect through the manipulation of gene expression or through altering the biological properties of living cells. The first attempt at modifying human DNA ...

is being studied for EI.

Epidemiology

The condition is rare, affecting around 1 in 200,000 to 300,000 babies.

History

EI was first classified by its presence or absence in the palms and soles by DiGiovanna and Bale in 1994.

Notes

References

External links

{{Cytoskeletal defects Genodermatoses Rare diseases Cytoskeletal defects