Primary immunodeficiency diseases (PIDs) are rare syndromes in infants and children. Skin alterations as one the most prevalent manifestation in these patients could arouse our suspicion to PIDs. As the number of studies investigating the spectrum of skin alterations in PIDs is significantly limited, this study aims to determine the types and prevalence of such manifestations. .
This article reports a 3-year lasting cross-sectional study conducted at Mofid children’s hospital in Iran. Participants were 212 patients (110 men, 102 females) whose PIDs were diagnosed by clinical immunologists and their skin lesions were described by dermatologists.
Skin disorders were detected in 95 patients among which 61 patients shown skin manifestations as a primary symptom.The types of PIDs among these 95 patients were as follows: 40 cases of combined immunodeficiency, 9 cases of humoral immunodeficiency, 30 cases of congenital defects in phagocyte, and 16 cases of other PIDs. Skin infections with prevalence of 72.6% were the most skin disorders followed by eczematoid skin lesions with an occurrence rate of 25%. Other skin manifestations included: erythroderma, granolumas, pigmentary changes, dysplasia of hair and skin, autoimmunity and vasculitis. Some of these skin lesions have given practitioners clues for diagnosing PIDs: partial albinism and silvery hair in all patients with chediak-higashi (5 cases) and griscelli syndrome (2 cases) ,and erythroderma in all of the infants with Omenn syndrome (5 cases).
Our findings support other studies in the way that a proper understanding of skin manifestations relevant to PIDs could lead to an early diagnosis of immunodeficiencies.