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
CIE | IWC (CRIE) | |
|---|---|---|
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 |