Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum-Reference-Cited by-同舟云学术

Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum

Published:2021-03-19 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Irurzun Inés¹,Natale Mónica I.²,Agostinelli María L.³,Lamberti Magdalena¹,Montero Dolores¹,Granda Cecilia⁴,Mássimo José A.¹,Manzur Graciela B.¹²,Valinotto Laura E.²⁵^ORCID

Affiliation:

1. Dermatology Unit Hospital de Niños Dr. Ricardo Gutiérrez Buenos Aires Argentina

2. Center in Investigation of Genodermatosis and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires Buenos Aires Argentina

3. Private practice Venado Tuerto, Santa Fe Argentina

4. Pathological Anatomy Hospital de Niños Dr. Ricardo Gutiérrez Buenos Aires Argentina

5. National Scientific and Technical Research Council (CONICET) Buenos Aires Argentina

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14560

Reference36 articles.

1. IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

2. Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis

3. Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations inMBTPS2

4. A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation

5. Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia

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