Primary atopic disorders and chronic skin disease

Bianca Laura Cinicola; Stefania Corrente; Riccardo Castagnoli; Vassilios Lougaris; Giuliana Giardino; Lucia Leonardi; Stefano Volpi; Francesco La Torre; Silvia Federici; Annarosa Soresina; Caterina Cancrini; Gian Luigi Marseglia; Fabio Cardinale; Immunology Task Force of the Italian Society of Pediatric Allergy, Immunology (SIAIP)

doi:10.1111/pai.13633

Primary atopic disorders and chronic skin disease

Pediatr Allergy Immunol. 2022 Jan;33 Suppl 27(Suppl 27):65-68. doi: 10.1111/pai.13633.

Authors

Bianca Laura Cinicola^{1

2}, Stefania Corrente³, Riccardo Castagnoli^{4

5

6}, Vassilios Lougaris⁷, Giuliana Giardino⁸, Lucia Leonardi², Stefano Volpi⁹, Francesco La Torre¹⁰, Silvia Federici¹¹, Annarosa Soresina¹², Caterina Cancrini^{13

14}, Gian Luigi Marseglia^{5

6}, Fabio Cardinale¹⁰; Immunology Task Force of the Italian Society of Pediatric Allergy, Immunology (SIAIP)

Affiliations

¹ Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
² Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
³ Division of Pediatrics, S. Camillo-Forlanini Hospital, Rome, Italy.
⁴ Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
⁵ Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.
⁶ Department of Molecular Medicine, University of Pavia, Pavia, Italy.
⁷ Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy.
⁸ Pediatric Section, Department of Translational Medical Sciences, Federico II University, Naples, Italy.
⁹ Center for Autoinflammatory Diseases and Immunodeficiency, IRCCS Istituto Giannina Gaslini, Università degli Studi di Genova, Genoa, Italy.
¹⁰ Department of Pediatrics, Giovanni XXIII Pediatric Hospital, University of Bari, Bari, Italy.
¹¹ Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
¹² Unit of Pediatric Immunology, Pediatrics Clinic, University of Brescia, ASST-Spedali Civili Brescia, Brescia, Italy.
¹³ Academic Department of Pediatrics (DPUO), Immune and Infectious Diseases Division, Research Unit of Primary Immunodeficiencies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
¹⁴ Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.

Abstract

Primary atopic disorders (PADs) are monogenic diseases characterized by allergy or atopy-related symptoms as fundamental features. In patients with PADs, primary immune deficiency and immune dysregulation symptoms are usually coexist. Chronic skin disease, manifesting with erythroderma, severe atopic dermatitis or eczema, and urticaria, is one of the main features observed in PADs, such as hyper-IgE syndromes, Omenn syndrome, Wiskott-Aldrich syndrome, IPEX-linked syndrome, skin barrier disorders, as well as some autoinflammatory diseases. The recognition of PADs in the context of an allergic phenotype is crucial to ensure prompt diagnosis and appropriate treatment. This article provides an overview of the main PADs with skin involvement.

Keywords: IgE; allergy; inborn errors of immunity; primary atopic disorders; skin.

Publication types

Review

MeSH terms

Eczema*
Humans
Hypersensitivity, Immediate*
Job Syndrome* / genetics
Skin Diseases*
Urticaria* / diagnosis