Acral lamellar Ichthyosis – expanding the phenotype of temperature-sensitive keratinization disorders

Lamellar ichthyosis is a MEDOC (Mendelian disorders of cornification) that belongs to the ARCI group (Autosomal recessive congenital ichthyosis) ¹, characterized by large brownish scaly lesions tightly adherent, with typical involvement of the face, which may lead to ectropion. Mutations in at least 12genes have been described in the ARCI group².

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