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Current Allergy and Asthma Reports

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01-02-2021 | Sarcoidosis | Autoimmunity (TK Tarrant, Section Editor)

Distinguishing Blau Syndrome from Systemic Sarcoidosis

Authors: Katherine P. Kaufman, Mara L. Becker

Published in: Current Allergy and Asthma Reports | Issue 2/2021

Abstract

Purpose of Review

The purpose of this review is to provide a framework to distinguish Blau syndrome/Early Onset Sarcoidosis and Sarcoidosis clinically. We also discuss relevant differences in genetics, pathogenesis, and management of these diseases.

Recent Findings

Blau syndrome and Sarcoidosis share the characteristic histologic finding of noncaseating granulomas as well as some similar clinical characteristics; nevertheless, they are distinct entities with important differences between them. Blau syndrome and Early Onset Sarcoidosis are due to one of numerous possible gain-of-function mutations in NOD2, commonly presenting before age 5 with a triad of skin rash, arthritis, and uveitis. However, as more cases are reported, expanded clinical manifestations have been described. In systemic Sarcoidosis, there are numerous susceptibility genes that have been identified, and disease is thought to result from an environmental exposure in a genetically susceptible host. It most often presents with constitutional symptoms and pulmonary involvement and typically affects adolescents and adults.

Summary

This paper reviews the similarities and differences between Blau syndrome and Sarcoidosis. We also discuss the importance of distinguishing between them, particularly with regard to prognosis and outcomes.

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Title: Distinguishing Blau Syndrome from Systemic Sarcoidosis
Authors: Katherine P. Kaufman
Mara L. Becker
Publication date: 01-02-2021
Publisher: Springer US
Keywords: Sarcoidosis
Uveitis
Arthritis
Sarcoidosis
Published in: Current Allergy and Asthma Reports / Issue 2/2021
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI: https://doi.org/10.1007/s11882-021-00991-3

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Distinguishing Blau Syndrome from Systemic Sarcoidosis

Abstract

Purpose of Review

Recent Findings

Summary

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Springer Medicine

Abstract

Purpose of Review

Recent Findings

Summary

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Other articles of this Issue 2/2021

Chemosensory Dysfunction in Patients with COVID-19: What Do We Learn from the Global Outbreak?

Infant Anaphylaxis: A Diagnostic Challenge

The Role of Lipid Transfer Proteins as Food and Pollen Allergens Outside the Mediterranean Area

Cutaneous Manifestations Related to COVID-19 Immune Dysregulation in the Pediatric Age Group

Asthma in Cystic Fibrosis: Definitions and Implications of This Overlap Syndrome

Idiopathic Anaphylaxis: a Perplexing Diagnostic Challenge for Allergists