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Table 2 Differential diagnosis between congenital ichthyosiform erythroderma (CIE) and ichthyosis with confetti (IWC) / congenital reticular ichthyosiform erythroderma (CRIE)

From: Ichthyosis with confetti: clinics, molecular genetics and management

Classification Non-syndromic autosomal recessive congenital ichthyosis (ARCI) Non-syndromic congenital ichthyosis
Mode of inheritance Autosomal recessive Autosomal dominant
Mutated genes a ABCA12, ALOXE3, ALOX12B, CERS, CYP4F22, NIPAL4, PNPLA1, TGM1 KRT10, KRT1
Gene function Epidermal lipoxygenase/hepoxilin metabolism, ceramide synthesis, cornified envelope precursor cross-linking Intermediate filament assembly
Clinical findings
Onset At birth At birth
Initial clinical presentation CIE or, less frequently, collodion baby CIE or collodion baby
Disease course Ranging from mild to severe During childhood numerous spots of normal skin manifest and are the hallmark of the disease. A later age for normal skin spot appearance characterizes IWC caused by KRT1 mutation
Distribution of scaling Generalized, focally pronounced scaling possible Verrucous adherent hyperkeratosis, more evident on limbs, possible. Later reticular ichthyosiform pattern
Scaling type/color Fine/white or gray Fine to coarse, yellow-brown
Erythema Variable, often pronounced Pronounced
Palmoplantar involvement Mild to pronounced Mild to pronounced
Hypohidrosis Moderate to severe Reported in some cases
Scalp abnormalities Scarring alopecia possible Scaling alopecia possible, hair loss and alopecia universalis reported
Other skin findings Rarely ectropion Hypertrichosis, ectropion, eclabion
Associated findings Failure to thrive, short stature (if severe) Ear deformities, mammillae hypoplasia, growth failure
Risk of death Present during neonatal period Elevated during neonatal period
Histopathology Hyperkeratosis with occasional parakeratosis, normal or thickened granular layer, pronounced acanthosis Hyperkeratosis with/without (KRT10/KRT1-subtypes) parakeratosis, reduced or absent granular layer, pronounced perinuclear vacuolisation of suprabasal keratinocytes; coarse keratohyalin granules in KRT1-subtype.
Immunopathology No specific findings Reduction of keratin cytoplasmic staining in epidermal suprabasal cell layers, dot-like labelling of numerous nuclei in suprabasal epidermis, bright perinuclear rings in scattered keratinocytes
  1. a ABCA12 ATP-binding cassette subfamily A12; ALOX arachidonate lipoxygenase; CERS3 ceramide synthase 3; CYP4F22 cytochrome P450 4 F22; NIPAL4 NIPA-like domain containing 4; PNPLA1 patatin-like phospholipase domain-containing protein 1; TGM1 transglutaminase-1; KRT10/KRT1 keratin 10/1 [4, 28, 29]