D3.306 - Successful treatment of severe atopic dermatitis in teenage patient with hyper-IgE syndrome (STAT3 mutation)

Background 

Hyper-IgE syndromes (HIES) belong to a group of heterogeneous multi-system immunodeficiency disorders predominantly presenting with recurrent cutaneous and soft tissue abscesses, respiratory tract infections as well as intermittent eczema-like lesions. The primary goal of the dermatological treatment is to reduce the outbreaks and thus to minimize the quality of life impairment due to the mentioned cutaneous symptoms. 

Case 

A 11 y/o male patient presented with recurrent itchy, eczema-like lesions covering the whole body (including lesions on the face and scalp) leading to a severe quality of life and sleep impairment. Apart from that the patient suffered from asthmatic symptoms with recurrent respiratory tract infections as well as cutaneous superinfections. A HIES (STAT3 mutation c.1954G>A; p.Glu652Lys) had already been diagnosed at the age of one. Apart from an antibiotic and antifungal prophylaxis a treatment with immunoglobulins was initiated. As intensive topical treatment could not achieve sufficient inflammation control, treatment with dupilumab (400 mg q4w) was initiated. The initiation of this monoclonal antibody lead to a fast amelioration of skin lesions and, importantly, reduced the debilitating itch that prevented the patient from participating in daily activities.  

Conclusions 

Treatment of skin lesions and eczema in HIES presents a particular challenge as these lesions with severe pruritus appear to be mostly irresponsive to topical treatments. Our case highlights that even in this rare disorder, dupilumab appears to be a safe and well-tolerated treatment that can reduce the severe itch and prevent outbreaks as well as bacterial superinfections of the skin.