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Autosomal recessive epidermolytic ichthyosis
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Disease definition
A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure.
ORPHA:512103
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Emergency guidelines
Clinical practice guidelines
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
- Research project(s) (41)
- Clinical trial(s) (1)
- Biobank(s) (8)
- Registry(ies) (22)
- Network of experts (5)
Newborn screening
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