Skin Manifestations in Patients with Selective Immunoglobulin E Deficiency

Abstract

Selective immunoglobulin E deficiency (SIgED) is still an unrecognised primary immunodeficiency despite several observations supporting its existence. This study aimed to describe the skin manifestations associated with SIgED. We retrospectively assessed medical records of patients with SIgED, the diagnosis being based on serum IgE levels ≤2 Uk/L associated with normal serum levels of immunoglobulins G, M, and A. A total of 25 patients (24 female) with SIgED were included in the study. Eleven patients (44%) presented chronic spontaneous urticaria (CSU), five (20%) angioedema always associated with CSU, five erythema (20%), and six eczema (24%). Other, less frequent manifestations were lichen planus, anaphylactoid purpura, thrombocytopenic purpura, bullous pemphigoid, bullous pyoderma gangrenosum, and atypical skin lymphoproliferative infiltrate associated with reactive lymphadenopathy, chronic cholestasis, arthritis, and fibrosing mediastinitis. Fifteen patients (60%) had different types of associated autoimmune diseases, Hashimoto’s thyroiditis being the most frequent (n = 5, 20%), followed by arthritis (n = 4, 16%), autoimmune hepatitis, neutropenia, vitiligo, and Sjögren’s syndrome (n = 2, 8% each). Five malignancies were diagnosed in four patients (16%). An ultralow IgE serum level may be the only biomarker that reveals the presence of a dysregulated immune system in patients with a broad spectrum of skin manifestations.

What can inherited immunodeficiencies reveal about pyoderma gangrenosum?

“…He had an erythematous plaque that progressed into an ulcer on the lower leg and was diagnosed as bullous PG. Despite treatment with prednisone, cyclosporine and mycophenolate mofetil, the ulcer did not heal 78 . The pathogenesis and association between selective IgE deficiency and PG may stem from IgE's mucosal predominance and its similarity to the proposed protective role IgA plays in preventing systemic absorption of mucosal antigens, thereby preventing autoimmune activity 71 …”