Unique ulcerative autoinflammatory disease mistaken for factitious disorder

Abstract

Autoinflammatory diseases (AID) are disorders of inappropriate innate immune system activation. Twenty-four percent of patients with AID do not have a well-defined clinical picture or pathogenic mutation and are characterized as having undefined AID. Cutaneous ulcers have been described but not outside of distinct histologic and clinical disorders. We present a unique case of undefined adult-onset AID with ulcers mistaken for a factitious disorder.A 32 year-old female with borderline personality disorder, depression, and anxiety developed recurrent cutaneous MRSA abscesses and recurrent ulcers of the extremities and scalp associated with alopecia. The ulcers were minimally-responsive to IV antibiotics, isotretinoin, oral dapsone, intralesional triamcinolone, and adalimumab. Flares of the skin disease were associated with fevers and elevated inflammatory markers.Scalp ulcer biopsies revealed numerous pigmented hair casts with trichomalacia and perifollicular lymphocytic infiltrate. One hair follicle contained bacterial cocci associated with a perifollicular neutrophilic infiltrate. These findings along with the patient's psychiatric history led to a diagnosis of trichotillomania from multiple dermatology and psychiatry consultations. The patient denied that she was inducing the lesions and sought another psychiatric consultation, who felt this was not a factitious disease. She was referred to immunology for evaluation of a possible IEI. Laboratory evaluation revealed mild hypogammaglobulinemia with IgG of 663 (768–1632) mg/dL, normal antibody response to recall antigens, but absent response to neo-antigen (Salmonella typhi). Peripheral lymphocyte phenotyping was normal except for a relative decrease in the number of memory B-cells with CD27+IgD+% of 6.9 (13.4–21.4) and CD27+IgD-% of 2.5 (9.2–18.9). Neutrophil oxidative burst was normal. Whole exome sequencing did not identify variants in genes associated with her phenotype.The patient was partially responsive to IVIG but highly responsive to high-dose intravenous methylprednisolone. She was subsequently diagnosed with undefined AID based on Eurofever registry criteria matching her clinical course and had near complete resolution of skin lesions and alopecia with the addition of anakinra.Clinicians must be vigilant for atypical presentations of AID. Our patient had signs of undefined AID but had a delayed diagnosis due to her psychiatric disorders, to which her symptoms were attributed, and a previously undescribed presentation of AID.