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 of the European Academy of Dermatology & Venereology – Wiley
Published: Jan 1, 2018
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
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.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera