Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses.

Monogenic diseases of immune dysregulation should be considered in the evaluation of children presenting with recurrent neutrophilic dermatoses in association with systemic signs of inflammation, autoimmune disease, hematologic abnormalities, and opportunistic or recurrent infections. We report the case of a 2-year-old boy presenting with a neutrophilic dermatosis, found to have a novel likely pathogenic germline variant of the IKAROS Family Zinc Finger 1 (IKZF1) gene; the mutation likely results in a loss of function dimerization defective protein based on reports and studies of similar variants. IKZF1 variants could potentially lead to aberrant neutrophil chemotaxis and development of neutrophilic dermatoses. Long-term surveillance is required to monitor the development of hematologic malignancy, autoimmunity, immunodeficiency, and infection in patients with pathogenic IKZF1 germline variants.

Epidermolysis bullosa acquisita treated with ustekinumab: A case report.

Epidermolysis bullosa acquisita is a rare autoimmune disease involving cutaneous blistering and scarring associated with collagen VII autoantibodies. Similarly, collagen VII autoantibodies are present in the majority of Crohn's disease patients and approximately a quarter of epidermolysis bullosa acquisita patients have coexisting Crohn's disease. Treatment options for epidermolysis bullosa acquisita are limited and are largely ineffective. Here, we describe a 36-year-old female with a history of Crohn's disease presenting with a 7-year history of severe blistering and scarring of acral surfaces. Diagnostic workup revealed subepidermal cleavage on skin biopsy and elevated serum collagen VII autoantibodies, indicative of epidermolysis bullosa acquisita. She was given ustekinumab for her coexisting Crohn's disease and, afterwards, her epidermolysis bullosa acquisita resolved as evidenced by a lack of new blisters or scarring. Further studies are required to evaluate the effects of ustekinumab on epidermolysis bullosa acquisita.