Skin manifestations in pediatric patients with inborn errors of immunity.

The clinical presentation of inborn errors of immunity (IEI) is variable and includes severe or unusual infections, autoimmune diseases, and neoplastic diseases. The skin constitutes a target organ of multiple IEI; dermatoses may be its first manifestation or the most evident, hence its relevance for the diagnostic approach.
Objective: to determine the frequency and type of skin manifestations in pediatric patients with IEI

Observational, descriptive, and cross-sectional study, carried out in a cohort of pediatric patients diagnosed with IEI, from western Mexico.
Results: 18 patients with IEI and skin manifestations were included. Men: 11, women: 7, with the following diagnoses: Hyper IgE Syndrome: 2, X-linked agammaglobulinemia: 4, Hereditary Angioedema: 2, Mucocutaneous Candidiasis: 1, Chronic Granulomatous Disease: 1, Severe Combined Immunodeficiency: 2 (1 Omenn), Wiskott-Aldrich Syndrome: 3, Phenocopy Defect: 1, Pneumococcal vaccine Antibody Response Deficiency: 2 one with ectodermal Dysplasia: 1. The average age at the time of skin manifestations was: 49 months. The presentation of skin manifestations was: infectious: 9 patients (molluscum contagiosum: 1, oral candidiasis: 3, nail mycosis: 1, vaginal candidiasis: 1, skin abscesses: 3, periorbital cellulitis: 1, BCGitis: 3, autoimmune skin manifestations: alopecia universalis: 1, scleroderma: 1, allergic skin manifestations: 8: eczema mild 3, severe eczema 2, prurigo: 1, angioedema: 2 Hematological skin manifestations: 4 patients: petechiae and bruising. Three patients died: one patient with Omenn syndrome, one with severe combined immunodeficiency, and one with Wiskott-Aldrich syndrome. Fourteen patients received gamma globulin therapy. One patient received Icatibant, one patient interferon gamma 1-b. Currently, seven patients receive antimicrobial prophylaxis.
Conclusions: In patients with IEI there may be cutaneous manifestations not only of infectious origin but also of autoimmune and allergic origin. Skin abscesses and BCGitis should lead to suspicion of IEI.

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