Cutaneous Manifestations of Primary Immunodeficiency Diseases in Libyan Children

Primary immunodeficiency diseases (PID) or inborn errors of immunity are a group of inherited disorders characterized by defects in components of innate and/or adaptive immunity. Cutaneous manifestations are common in PIDs. The cutaneous manifestations are often the presenting symptoms which help in the diagnosis. Patients with PID are more prone to recurrent, unusual, prolonged or severe infections, and often these infections involve the skin. PID patients may also manifest non-infectious cutaneous signs such as eczema/erythroderma, granulomas, urticaria, vasculitis, and autoimmune skin diseases due to immune dysregulation. Certain PIDs also have specific cutaneous features such as telangiectasia and silvery sheen of hair. Although individual immunodeficiency syndromes are rare, the PIDs as a whole are not uncommon. This review article gives a summary of the common cutaneous manifestations in PID with a focus on the clinical clues for diagnosis.

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CUTANEOUS MANIFESTATIONS OF PRIMARY IMMUNODEFICIENCY DISEASES IN TUNISIAN CHILDREN

Mediterranean Journal of Hematology and Infectious Diseases ◽

10.4084/mjhid.2018.065 ◽

2018 ◽

Vol 10 ◽

pp. e2018065

Author(s):

Naouel GUIRAT ◽

Monia Ben Khaled ◽

Monia Ouederni ◽

Imen Ben-Mustapha ◽

Ridha Kouki ◽

...

Keyword(s):

Primary Immunodeficiency ◽

Skin Diseases ◽

Failure To Thrive ◽

Primary Immunodeficiency Diseases ◽

Cutaneous Manifestations ◽

Cutaneous Infections ◽

Immunodeficiency Diseases ◽

Eczematous Dermatitis ◽

The Common ◽

A Prospective Study

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.

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Az elsődleges immunhiány-betegségek bőrmanifesztációi

Orvosi Hetilap ◽

10.1556/650.2018.30994 ◽

2018 ◽

Vol 159 (23) ◽

pp. 937-947

Author(s):

Adrienn Erzsébet Bojtor ◽

Miklós Sárdy ◽

László Maródi

Keyword(s):

Early Childhood ◽

Primary Immunodeficiency ◽

Fungal Infections ◽

Genetic Disorders ◽

Primary Immunodeficiency Diseases ◽

Cutaneous Manifestations ◽

Inflammatory Disorders ◽

Dermatological Diseases ◽

Immunodeficiency Diseases

Abstract: Primary immunodeficiency diseases (PIDs) are inherited, genetic disorders. The majority of PIDs are diagnosed in infancy or early childhood, but manifestation in adulthood may also occur. Frequent, recurrent and prolonged infections, which respond poorly to treatment may be heralding signs. PID patients may have increased suspectibility to infections, that mostly affect the sino-pulmonary and intestinal tracts and the skin. PIDs are also frequently associated with autoimmune and inflammatory disorders. Cutaneous manifestations affect 40% to 70% of patients with diagnosed PID. Bacterial and fungal infections of the skin, recurrent pyogen abscesses are common complications. Severe atopy, eczema and erythroderma occurring early in childhood should raise awareness of PID. Cutaneous granulomas, pigment changes and dysplasia of skin, hair, and nails can also be seen frequently in some of these conditions. Here we overview the most frequent dermatological diseases occuring in patients with PID. Orv Hetil. 2018; 159(23): 937–947.

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