Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation

Boyden, L. M.; Craiglow, B. G.; Hu, R. H.; Zhou, J.; Browning, J.; Eichenfield, L.; Lim, Y. L.; Luu, M.; Randolph, L. M.; Ginarte, M.; Fachal, L.; Rodriguez-Pazos, L.; Vega, A.; Kramer, D.; Yosipovitch, G.; Vahidnezhad, H.; Youssefian, L.; Uitto, J.; Lifton, R. P.; Paller, A. S.; Milstone, L. M.; Choate, K. A.

Br J Dermatol. 2017 Apr 14


The ichthyoses are rare skin disorders linked by the common finding of scale and concomitant barrier function abnormalities. Recently, mutations in PNPLA1 which encodes patatin-like phopholipase domain containing 1, and plays a role in the formation of the epidermal lipid barrier, have been identified as rare cause of non-syndromic ARCI1-6 . This article is protected by copyright. All rights reserved.

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