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© 2014 The Authors. doi: 10.2340/00015555-1695 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555 Epidermolytic ichthyosis (EI, MIM#113800) is a rare genetic disorder of keratinisation with the incidence estimated to be less than 1 in 100,000. The phenotype is characterised by congenital erythroderma, blistering and erosions of the skin, which cease in the first months of life and are followed by hyperkeratosis and verrucous scaling from early childhood (1). The disorder is dominantly inherited and caused by mutations in the genes encoding keratin 1 or 10 (KRT1, KRT10) (2), which are expressed in the suprabasal epidermal layers (3). The histological findings in EI, comprise thickened epidermis, epidermolysis within the suprabasal layer, and vacuolar degeneration and presence of keratinocyte granules in the granular layer (4). In addition to the generalised form of EI, epidermolytic naevi following the Blaschko’s lines, representing segmental mosaicism for KRT1 or KRT10 mutations have been described in a few patients. Mutations in KRT1 (5) and KRT10 (1, 6, 7) were found in the lesional but not in non-lesional skin, and in some (6), but not all cases (1, 5), the respective mutation was found at low allelic levels in DNA from lymphocytes. If the germ line is also affected, patients with epidermolytic naevi are at risk of transmitting EI to the offspring.

Extensive Postzygotic Mosaicism for a Novel Keratin 10 Mutation in Epidermolytic Ichthyosis