Autosomal dominant lamellar ichthyosis
Definition:
Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734]. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer.
References:
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[1]. G Kolde, et al. Autosomal-dominant lamellar ichthyosis: ultrastructural characteristics of a new type of congenital ichthyosis. Arch Dermatol Res. 1985;278(1):1-5. [Content Brief]
[2]. Lynn M Boyden, et al. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. Am J Hum Genet. 2020 Jul 2;107(1):158-163. [Content Brief]
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