Track: Case Reports

Abstract:

Pernio (perniosis, chilblains) is an inflammatory condition precipitated by cold temperature affecting acral sites with tender erythemato-violaceous macules, papules, or nodules which may blister or ulcerate. Pernio is generally idiopathic, but secondary causes have been described, including systemic lupus erythematosus. Its pathophysiology is still poorly understood but appears to be primarily related to cold-induced vasoconstriction. COVID-19-associated pernio has led to renewed efforts to understand the pathophysiology of pernio. It has also been observed in a few case reports as the sole presenting manifestation of celiac disease (CD), a chronic autoimmune enteropathy caused by gluten intolerance in genetically predisposed individuals. Dermatitis herpetiformis (DH) is a well-known extraintestinal manifestation with IgA deposition in the dermal papillae, but the pathogenesis of pernio in the context of CD remains unknown. Hypotheses have suggested subtle nutritional deficiencies or vasospasm inducing inflammation as seen in anorexia nervosa secondary to severe weight loss, psychostimulant use, or hyperviscosity syndromes. We report three additional cases of pernio associated with CD, in one of which pernio was the only clinical manifestation of CD. In this case and other reports in the literature, a gluten-free diet was effective in reducing or eliminating the lesions, indicating a probable correlation between pernio and CD. Another case had direct immunofluorescence demonstrating colloid bodies positive for IgA, IgM, and C3. With the addition of our series to the literature, we call for screening for CD upon the diagnosis of pernio, especially in unexplained or persistent cases or when performing systemic workup for chilblains lupus erythematosus.