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Exfoliative ichthyosis

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Disease definition

Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.

ORPHA:289586

Classification level: Disorder

Synonym(s):
  • Autosomal recessive exfoliative ichthyosis
  • Ichthyosis exfoliativa

Prevalence: Unknown

Inheritance: Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: Q80.8

ICD-11: EC20.02

OMIM: 607936 617115

UMLS: C1838440

MeSH: C563978

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Svenska (2017) - Socialstyrelsen
Guidelines
Emergency guidelines
Français (2018.pdf) - Orphanet Urgences
Clinical practice guidelines
Français (2021) - PNDS Logo FSMR
Disease review articles
Clinical genetics review
English (2013.pdf) - Eur J Hum Genet
English (2023) - GeneReviews
Logo PROQOLID
Patient-Centered Outcome Measures (PCOMs)
Access questionnaires assessing quality of life in this disease (English)
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.