Ichthyosis with confetti Ichthyosis with confetti Ichthyosis en confetti, also known as ichthyosis with confetti, congenital reticular ichthyosiform erythroderma (CRIE) and ichthyosis variegata, is a very rare form of congenital ichthyosis in which healthy patches of normal skin co-exist within the abnormal skin areas. The condition is caused by a frameshift mutation in the keratin 10 gene (KRT10); mutant keratin 10 accumulates in the nucleolus, a sub-nuclear structure, rather than within cellular intermedite filaments like the wild-type protein. Children with the condition exhibit red, flaky skin; however, for reasons not yet totally clear, wild type clonal patches of skin start to appear, in
Harlequin-type ichthyosis autosomal recessive manner. Diagnosis is often based on appearance at birth and confirmed by genetic testing. Before birth amniocentesis or ultrasound may support the diagnosis. There is no cure. Early in life constant supportive care is typically required. Treatments may include moisturizing cream, antibiotics, etretinate, or retinoids. It affects about 1 per 300,000 births. Both sexes are affected equally commonly. Long term problems are common. Death in the first month is relatively common. The condition was first documented in 1750. Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis. Sufferers feature severe cranial and facial deformities. The ears may