1. Increased Prevalence of Filaggrin Deficiency in 51 Patients with Recessive X-Linked Ichthyosis Presenting for Dermatological Examination 
Kira Süßmuth, Robert Gruber, Elke Rodriguez, Heiko Traupe, Susanne Amler, Alberto Sánchez-Guijo, Frederic Valentin, Tatjana Tarinski, Natalia Straub, Dieter Metze, Stefan W. Schneider, Ingrid Hausser, Hansjörg Baurecht, Stephan Weidinger, Vinzenz Oji 
Journal of Investigative Dermatology 
Volume 138, Issue 3, Pages (March 2018)
DOI: /j.jid
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2. Figure 1
Recessive X-linked ichthyosis and different FLG mutations in two independent families. (a–c) Family 1. (a) Patient with XLI and without FLG mutations (XLIFLG+/+). (b) Patient with XLI and two FLG mutations (FLG–/–). (c) Their mother with ichthyosis vulgaris and the two sons. Note palmar hyperlinearity in the mother (middle) and in the second son (right), who is a compound heterozygous FLG mutation carrier (ID 9.1). His brother (left) does not have any FLG mutations and does not show hyperlinearity (ID 9.2). (d–i) Family 2. (d–f) Patient with XLI and one FLG mutation (FLG+/–) showing plantar hyperlinearity and early neonatal desquamation. (g, h) His brother with XLI and FLG+/– showing palmar hyperlinearity. (i) Their mother with ichthyosis vulgaris showing palmar hyperlinearity. XLI, X-linked ichthyosis.
Journal of Investigative Dermatology  , DOI: ( /j.jid )
Copyright © 2017 The Authors Terms and Conditions