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

Loading next page...
 
/lp/wiley/novel-pnpla1-mutations-in-two-italian-siblings-with-autosomal-laILA8WI1d
Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 European Academy of Dermatology and Venereology
ISSN
0926-9959
eISSN
1468-3083
D.O.I.
10.1111/jdv.14618
Publisher site
See Article on Publisher Site

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

There are no references for this article.

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • No expiration
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches

$49/month

Start Free Trial

14-day Free Trial

Best Deal — 39% off

Annual Plan

  • All the features of the Professional Plan, but for 39% off!
  • Billed annually
  • No expiration
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.

$588

$360/year

billed annually
Start Free Trial

14-day Free Trial