Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children

Abstract

Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of immunodeficiency. This review provides the reader with an up-to-date summary of the common dermatologic manifestations of PIDs among Tunisian children. We conducted a prospective study on two hundred and ninety children with immune deficiency. Demographic details (including age, sex, and consanguinity) with personal and family history were recorded. Special attention was paid to cutaneous manifestations. Dermatological involvements were grouped according to the etiology of their most prominent sign. Cutaneous manifestations were found in 164 patients (56.5%). They revealed the diagnosis of PIDs in 71 patients (24.5 %). The mean age at presentation was 21 months. Overall the most prominent cutaneous alterations were infectious. They accounted for 106 cases (36.55%). The most prevalent causes of cutaneous infections were bacterial: 93 cases (32.06%). Immuno-allergic skin diseases were among the common findings in our study. These include eczematous dermatitis found in 62 cases (21.38%). Malignancy related PIDs was seen in a boy with Wiskott Aldrich syndrome. He developed Kaposi’s sarcoma at the age of 14 months. Cutaneous changes are common among children with PIDs. In pediatric patients with failure to thrive, chronic refractory systemic manifestations often present in other family members, recurrent cutaneous infections unresponsive to adequate therapy, atypical forms of eczematous dermatitis or unusual features should arouse the suspicion of PIDs and prompt specialized immunologic consultation should be made.

A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years

“…The prevalence of skin infections in the present report (16.3%) is much lower than that reported from Colombia, Tunisia, Iran, and Mexico (56.63%, 36.55%, 47.1%, and 61.5%, respectively) ( 4 , 5 , 7 , 8 ) as well as from that reported by us earlier from Kuwait (30%) ( 6 ). This represents improved awareness of infection control care of our IEI patients over the years.…”

“…Eczematous rashes have been reported in 13%-57% of the patients with IEI in previous reports (4)(5)(6)(7)(8). We feel that the low frequency of eczematous/eczematoid rashes in this report (15.7%) as compared to our earlier report (19%) ( 6) is due to widening of our IEI registry including several patients with IEI that are not associated with eczematous rashes.…”

“…We observed skin manifestations in 40% of our patients, and they were the presenting signs in 33%, representing 82% of all with skin manifestations. This high number compared to previous reports (4,5,7,8) is partly due to the prospective type of our study and due to the relatively high number of patients with combined immunodeficiencies registered in the KNPIDR. Skin manifestations were observed to be a consistent finding in diseases with more than 10 patients registered like DOCK8 deficiency, HIGE, RAG1 deficiency, and AT.…”

“…Skin manifestations have been reported in 40%-70% of the patients with IEI, and they are among the presenting features in majority of them (3)(4)(5)(6)(7)(8). There are only a few studies that have focused on the whole spectrum of cutaneous manifestations seen among IEI patients (4)(5)(6)(7)(8). Most data are restricted to cutaneous manifestations of one disorder, case series, or isolated case reports (9).…”

Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

“… 10 Petechiae and purpura serve as a hint to identify WAS. 65 Telangiectasia is a common feature in AT‐like disordersand Bloom syndrome. 16 , 18 , 65 …”