Articles for the ‘Ichthyosis’ category

Bullous Ichthyosis (also called bullous ichthyosiform erythroderma (BIE) or epidermolytic hyperkeratosis (EHK))

What is it? This is a rare genetic skin disorder affecting less than 1 in 100,000 though it is likely that some mild cases are not recognised. It is characterised by blisters, skin fragility and ichthyosis.


Collodion Baby

All parents hope that their new born baby will be entirely normal. Words can not easily express the initial distress and shock of being told you have a collodion baby especially as parents receive little information about the condition in the first few days after birth. This article attempts to provide such information:


EKV (erythrokeratoderma variabilis)

EKV (erythrokeratoderma variabilis) is a very rare, inherited skin disease. There are approximately 50 affected families in the UK. The name comes from the clinical findings of redness (erythema) and thickened skin (hyperkeratosis). When does it begin? 90% of affected individuals develop skin findings in the first year of life. What does it look like? […]


Harlequin Ichthyosis

This is an extremely rare and severe inherited (genetic) ichthyosis.  There are approximately five such children born in the UK each year and some may be stillborn.  The name comes from the appearance of the skin at birth.


Ichthyosis Vulgaris

Ichthyosis vulgaris (IV) is the commonest of the inherited or genetic ichthyoses. It occurs in roughly 1 in 250 people and equally in males and females. Like many diseases due to an abnormal gene it can be passed on from one generation to the next, from an affected person to his or her child. It […]


Lamellar Ichthyosis

What is it? This is an extremely rare skin disorder characterised by abnormal scaling and shedding of the skin. It is estimated to occur in 1/600,000 births. Most affected individuals will be born as a “collodion baby”.


Non-Bullous Ichthyosiform Erythroderma (also called "congenital ichthyosiform erythroderma")

What is it? This is an extremely rare skin disorder characterised by abnormal scaling of the skin with underlying redness. It is estimated to occur in 1/300,000 births. Most affected individuals will be born as a ‘”collodion baby”.


Netherton’s Syndrome

Netherton’s syndrome is a rare congenital skin disease (present at birth) of unknown cause which is classified as an ichthyosis.  That is because the skin is red and scaly most, if not all the time. There are also hair, infection and allergy problems but because red skin at birth can be due to several diseases, […]


Overview of ichthyosis

What is ichthyosis? Ichthyosis is a term used to describe continual scaling of the skin. It comes from a Greek word “ichthys” which means fish although not all affected people have fish-like scales. It is quite rare and can be inherited (genetic or congenital) or develop later in life (acquired). The inherited forms of ichthyoses […]


Palmoplantar keratoderma (PPK)

Palmoplantar keratoderma What is it? “Palmoplantar” means palms of the hands and soles of the feet,and “keratoderma” means thickened skin. So palmoplantar keratoderma is a disorder in which the skin of the palms and soles is abnormally thick. It is rare, and it often runs in families. There are different types, but all members of […]


Rare Ichthyoses

I. Sjögren-Larsson syndrome This condition is characterised by three features: a) ichthyosis; b) neurological problems which are often severe and c) mild to moderate mental retardation. The neurological problems can cause weakness and partial paralysis in the legs, but often these children learn to walk unaided or with the help of crutches.


X-Linked Ichthyosis

What is it? X-linked ichthyosis (XLI) is a condition due to an inherited deficiency of an enzyme called steroid sulphatase. This enzyme is found throughout the body but seems most important in the skin. When there is too little enzyme the skin can’t “shed” normally so it appears dry and scaly. All of the skin […]


What is Ichthyosis?

Ichthyosis, pronounced Ick-thee-o-sis, is a term used to describe continual scaling of the skin. It comes from a Greek word “ichthys” which means fish although not all affected people have fish-like scales. It is quite rare and can be inherited (genetic or congenital) or develop later in life (acquired). The inherited forms of ichthyoses are […]


Causes

Inherited ichthyosis is caused by faulty copies of genes, which are passed on from one generation to the next. Each type of ichthyosis is due to a different genetic mutation and the pattern of inheritance varies. Therefore expert genetic advice will be needed by families with affected children.


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