Inherited ichthyoses are monogenic disorders of cornification due to mutations in genes involved in skin barrier function. Skin changes involve most of the tegument, and are characterized by scales of various forms and severities, and these are often associated with erythema. The classification should be clinically based, and distinguish syndromic from nonsyndromic ichthyoses.

  • Specific challenges associated with the recognition of the condition

The recognition of the condition is usually straighforward

  • Specific challenges associated with the diagnosis

The diagnosis of the form of ichthyosis is usually very difficult

  • Specific challenges associated with the treatment

There is no curative treatment. The treatment is symptomatic (local or systemic) and usually not enough effective and burdensome

  • Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps accross the care

A transition from childhood through to adulthood must be organized. Adolescence is a difficult period

Quality of life severely affected as demonstrated by several publications

 

Incidence : n/a

Prevalence : Approximately 13.3 per million people in Europe for moderate to severe forms

Palmoplantar keratodermas comprise a diverse group of hereditary disorders marked by excessive thickening of the epidermis of palms and soles. They are genetically heterozygous.

  • Specific challenges associated with the recognition of the condition

The recognition of the condition is usually straighforward

  • Specific challenges associated with the diagnosis

The diagnosis of the form of palmoplantar keratoderma is usually very difficult

  • Specific challenges associated with the treatment

There is no curative treatment. The treatment is symptomatic (local or systemic) and usually not enough effective and burdensome

  • Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps accross the care

A transition from childhood through to adulthood must be organized. Adolescence is a difficult period

Quality of life severely affected but no publications

 

Incidence : n/a

Prevalence : No studies were performed on prevalence

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