Preferred Label : Ichthyosis with confetti;
Symbol : IWC;
CISMeF acronym : CRIE; IWC;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Ichthyosis variegata micropinnae, alopecia universalis, congenital ichthyosis, and
ectropion; Erythroderma, ichthyosiform, congenital reticular; Mauie syndrome; MAUIE; CRIE;
Included titles and symbols : Erythrokeratoderma, reticular; Aarau disease;
Description : Congenital reticular ichthyosiform erythroderma (CRIE) is a rare skin condition characterized
by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches
in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis,
with small islands of normal skin resembling confetti appearing in late childhood
and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform
acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper
epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural
abnormalities include perinuclear shells formed from a network of fine filaments in
the upper epidermis (summary by Krunic et al., 2003).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the keratin 10 gene (KRT10, 148080.0015);
Prefixed ID : #609165;
Origin ID : 609165;
UMLS CUI : C3665704;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
