TY - JOUR
AU - El Hachem, M.
AB - 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 
TI - Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis
JO - Journal of the European Academy of Dermatology & Venereology
DO - 10.1111/jdv.14618
DA - 2018-01-01
UR - https://www.deepdyve.com/lp/wiley/novel-pnpla1-mutations-in-two-italian-siblings-with-autosomal-laILA8WI1d
SP - e110
EP - e112
VL - 32
IS - 3
DP - DeepDyve
ER -