Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey

Abstract

Background: Inborn errors of immunity (IEI), previously referred to as primary immunodeficiencies, are a heterogeneous group of genetic disorders affecting immune development and function. While once considered rare, IEIs are increasingly recognized, particularly in regions with high consanguinity rates. Cutaneous manifestations, as well as ocular and hair abnormalities, may provide early and clinically relevant diagnostic clues. This study aimed to assess the prevalence, types, and diagnostic value of cutaneous, ocular and hair manifestations in patients with IEI.

Methods: A total of 386 patients with confirmed IEI, classified according to the 2024 IUIS criteria, were retrospectively analyzed. Cutaneous, ocular (e.g., conjunctivitis, keratitis, scleral telangiectasia), and hair manifestations (e.g., alopecia areata, pigmentary abnormalities) were systematically reviewed from medical records. Skin findings were categorized as infectious, immune-allergic (eczema, alopecia areata, urticaria, erythroderma), disease-specific, or other.

Results: Cutaneous, ocular, and/or hair manifestations were identified in 198 patients (51.3%), with 59.1% present at diagnosis. Infectious manifestations were the most common (71.8%), followed by immune-allergic findings (34.8%), including eczema (30.3%), and disease-specific manifestations (17.7%). Ocular findings were observed in 15.7% of patients, while hair abnormalities were present in 4.04%. Skin infections were predominantly bacterial (53.1%) and were most frequent in phagocytic and innate immunity defects. Eczema was most frequent in hyper-IgE syndrome (85.8%), while non-eczematous allergic findings were most common in immune dysregulation. Ocular involvement, including viral retinitis and scleral telangiectasia, and hair abnormalities, such as syndromic hair shaft defects and alopecia areata, were observed across multiple IEI subgroups.

Conclusion: Cutaneous, ocular, and hair abnormalities are frequent in IEI and may support early diagnosis. Recognition of recurrent, atypical, or treatment-resistant skin, eye, or hair findings should prompt immunological evaluation, particularly in pediatric patients.

Keywords: cutaneous infections; disease‐specific skin manifestations; eczema; hair abnormalities; inborn errors of immunity; ocular manifestations; primary immunodeficiency.