Skin manifestations in primary immunodeficient children

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Abstract

Skin manifestations are prevalent in primary immunodeficiency disorders (PID). In a large proportion of patients, they manifest as presenting signs and serve as important factors for the early diagnosis of PID. Only a few studies describing the spectrum of skin disorders in PID are available. The objective of the current study was to determine the prevalence and characteristics of skin manifestations in children with PID. Participants were 128 pediatric patients with PID (aged <16 years) registered prospectively over 6 years. Skin manifestations were observed in 61 patients (48%), and those manifestations were the presenting features in 50 (39% of total PID and 82% of those with skin lesions). Skin infections were the most prevalent manifestations, seen in 39 patients (30%), followed by eczemas in 24 (19%). Skin infections were significantly more prevalent in those with congenital defects in phagocyte number, function, or both, as well as in those with well-defined immunodeficiencies. Although widely present in all participants with PID, eczema was a consistent feature (100%) in patients with hyper IgE syndrome and Wiskott-Aldrich syndrome (WAS). Erythroderma of infancy with diffuse alopecia was seen exclusively in patients with severe combined immunodeficiency disorders, telangiectasia in patients with ataxia telangiectasia, and partial albinism with silvery gray hair in those with Chediak-Higashi syndrome. Autoimmune skin manifestations were observed in 6% of reported cases of PID. This study highlights the importance of awareness of skin manifestations of PID to assist in the early diagnosis and management of these disorders.


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