Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis EditorAutosomal recessive congenital ichthyoses (ARCI) are a clinically and genetically heterogeneous group of non‐syndromic ichthyoses due to mutations in at least 9 genes, including PNPLA1. PNPLA1 (Patatin‐Like Phospholipase Domain‐Containing Protein 1) is strongly expressed in the epidermal granular cell layer and has been recently shown to play a crucial role in epidermal ω‐O‐acylceramide biosynthesis and skin barrier integrity both in mice and humans. Concomitantly, several ARCI families carrying PNPLA1 mutations have been described confirming that most mutations occur in the highly conserved patatin core domain. We report the identification of two novel missense mutations in PNPLA1 in two Italian sisters affected with ARCI characterized by a cyclic disease course.A 3‐year‐old female child was addressed to our centre for diagnostic ascertainment of her congenital ichthyosis. At birth, she presented generalized erythema which almost completely cleared by the third month. From the fifth month, the disease recurred manifesting a cyclic course with a periodicity of about 6 weeks. Erythema and hyperkeratosis were followed by scaling, ending with almost normal skin. Physical examination showed a diffuse slight hyperkeratosis with small fine scales and scattered erythematous patches on the chest, abdomen and face (Fig. a). Scaling was more evident at the edge of erythematous http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of the European Academy of Dermatology & Venereology Wiley

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis

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Publisher
Wiley
Copyright
Copyright © 2018 European Academy of Dermatology and Venereology
ISSN
0926-9959
eISSN
1468-3083
D.O.I.
10.1111/jdv.14618
Publisher site
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Abstract

EditorAutosomal recessive congenital ichthyoses (ARCI) are a clinically and genetically heterogeneous group of non‐syndromic ichthyoses due to mutations in at least 9 genes, including PNPLA1. PNPLA1 (Patatin‐Like Phospholipase Domain‐Containing Protein 1) is strongly expressed in the epidermal granular cell layer and has been recently shown to play a crucial role in epidermal ω‐O‐acylceramide biosynthesis and skin barrier integrity both in mice and humans. Concomitantly, several ARCI families carrying PNPLA1 mutations have been described confirming that most mutations occur in the highly conserved patatin core domain. We report the identification of two novel missense mutations in PNPLA1 in two Italian sisters affected with ARCI characterized by a cyclic disease course.A 3‐year‐old female child was addressed to our centre for diagnostic ascertainment of her congenital ichthyosis. At birth, she presented generalized erythema which almost completely cleared by the third month. From the fifth month, the disease recurred manifesting a cyclic course with a periodicity of about 6 weeks. Erythema and hyperkeratosis were followed by scaling, ending with almost normal skin. Physical examination showed a diffuse slight hyperkeratosis with small fine scales and scattered erythematous patches on the chest, abdomen and face (Fig. a). Scaling was more evident at the edge of erythematous

Journal

Journal of the European Academy of Dermatology & VenereologyWiley

Published: Jan 1, 2018

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