Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epidermolytic Ichthyosis
Résumé
Epidermolytic ichthyosis (EI) is a rare disorder of keratinization belonging to the group of keratinopathic ichthyosis. EI is an autosomal dominant disease due to mutations in the genes encoding keratin 1 (KRT1) or keratin 10 (KRT10) expressed in the suprabasal layers of the epidermis (1). EI is characterized by erythroderma, blistering and erosions at birth, followed by generalized hyperkeratotic and verrucous lesions from early childhood. The lesions are generalized and palmo-plantar keratoderma may be seen (2). EI is a severe disease due to skin aspect, itching and recurrent episodes of skin infections with malodorous skin. Histological examination of skin lesions shows thickening of the stratum corneum, vacuolar degeneration of the epidermal suprabasal layer, and some clumping of tonofilaments in the keratin. Whereas EI is in the form of generalized skin lesions, localized segmental lesions along the Blaschko’s lines have been reported rarely as a consequence of post-zygotic somatic mutations in KRT1 or KRT10. Post-zygotic mosaicism in EI must be distinguished from epidermolytic naevi, a naevoid variant of keratinopathic ichthyosis characterized by localized hyperkeratotic lesions present at birth without an initial phase of blistering (3, 4). Post-zygotic mosaicism in EI usually has a limited distribution. We report here 2 cases of EI with an extensive distribution.
Domaines
Maladies infectieusesOrigine | Fichiers éditeurs autorisés sur une archive ouverte |
---|