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European Journal of Dermatology

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Defining the clinical spectrum of ichthyosis follicularis, atrichia and photophobia clinical association type 1 (IFAP1) Volume 33, issue 5, September-October 2023

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Authors
1 Rare Skin Diseases Center, Istituto Dermopatico dell’Immacolata, IDI-IRCCS, Rome, Italy
2 Human Functional Genetics Laboratory, IRCCS San Raffaele, Rome, Italy
3 San Raffaele University, Rome, Italy
4 Super Computing Applications and Innovation, Department HPC, CINECA, Casalecchio di Reno, Bologna, Italy
5 Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell’Immacolata, IDI-IRCCS, Rome, Italy

The triad of ichthyosis follicularis, atrichia, and photophobia with or without Bresheck syndrome (IFAP1; MIM#308205) defines a rare genodermatosis first recognized at the beginning of the last century [1]. Recently, the IFAP1 syndrome has been associated with deleterious variants in the MBTPS2 gene (MIM*300294), mapping on the X chromosome and encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2), involved in regulation of cholesterol homeostasis and control of endoplasmic [...]