Dermatitis Might Reflect a Systemic Autoinflammatory Syndrome

Is nonspecific dermatitis a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations?

We are often asked to assess a relatively nonspecific dermatitis characterized by erythematous macules, papules, or plaques with little scale, which reveals mild spongiosis and a lymphohistiocytic perivascular infiltrate on biopsy examination. Pruritus is common; patch testing identifies a cause in some, but cases without an identifiable cause may be part of an autoinflammatory syndrome. Patients with autoinflammatory disease have systemic manifestations, including fever, arthritis, serositis, and weight loss, or elevated markers of inflammation, such as erythrocyte sedimentation rate or C-reactive protein. Autoinflammatory syndromes have been linked to genetic abnormalities.

These authors explored a link between an otherwise nonspecific dermatitis and autoinflammation in 22 patients, 19 of whom had dermatitis accompanied by findings suggesting systemic disease. Only 8 of the patients with dermatitis had biopsy exams. The clinical findings resemble an urticarial process, but biopsies revealed mild spongiosis (3 patients), lymphohistiocytic perivascular infiltrates (3), granulomatous inflammation (1), and pigmented purpuric dermatosis (1). All patients had NOD2 gene mutations.

CITATION(S):

Yao Q et al. Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. J Am Acad Dermatol 2013 Apr; 68:624.