Pernio as the clinical presentation of celiac disease: A case report

Lemieux, Alexandre; Vivas, Natasha Emily Sanchez; Powell, Julie; Jantchou, P; Morin, Marie-Paule

doi:10.1177/2050313x20940442

Cited by 3 publications

(7 citation statements)

References 18 publications

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“…The patient described by St. Clair et al had significant weight loss, which might have been the predisposing factor for chilblains [ 12 ]. In contrast, the case report by Lemieux et al and our case did not have this predisposing factor [ 13 ]. The mechanism of peripheral vasoconstriction and cutaneous vasoreactivity due to weight loss is well described in patients with anorexia nervosa.…”

Section: Discussioncontrasting

confidence: 99%

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From Chilblains (Pernio) to Coeliac Disease—Should We Still Consider It Random?

et al. 2022

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Coeliac disease (CD) is a gluten-triggered, immune-mediated inflammatory disease occurring in genetically predisposed individuals, causing a variety of gastrointestinal and extraintestinal symptoms. The most common cutaneous association of CD is dermatitis herpetiformis, although recent reports have sought to link CD with other dermatological and autoimmune diseases. Chilblain, also called pernio, is usually a benign, superficial and localized inflammatory skin disorder that results from a maladaptive vascular response to non-freezing cold. We present a patient with pernio (chilblains) and newly diagnosed CD, with a significant intestinal lesion–total villous atrophy, as there are only two known cases of this feature associated with CD published in the literature. In the workup of chilblains (pernio) in children, an active case finding for coeliac disease should be conducted with coeliac-specific serology testing.

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Section: Discussioncontrasting

confidence: 99%

“…In a study by Dev et al, conducted on 300 coeliac disease patients, the most common skin manifestation of CD was dermatitis herpetiformis (16%), and the second was psoriasis (13.8%) [ 11 ]. To the best of our knowledge, there are only two published reports of chilblains associated with CD [ 12 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

From Chilblains (Pernio) to Coeliac Disease—Should We Still Consider It Random?

et al. 2022

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“…There is an unclear explanation for the pathogenesis behind pernio; however, studies have suspected it to be from an abnormal vascular response to cold exposure [ 2 ]. This cold-induced vasoconstriction or vasospasm causes hypoxemia that stimulates an inflammatory response.…”

Section: Discussionmentioning

confidence: 99%

“…This cold-induced vasoconstriction or vasospasm causes hypoxemia that stimulates an inflammatory response. There have been case reports demonstrating that pernio may be a cutaneous manifestation of celiac disease, which this patient did not suffer from [ 2 ]. Histological clues that favor idiopathic pernio include keratinocyte necrosis, severe dermal edema, and dermoscopic white dots and lines [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Symptoms usually develop 12-24 hours after cold exposure, with temperatures around 12-15°C and tend to resolve within one to three weeks [ 1 ]. Lesions may also blister and ulcerate and there is a poorly understood pathophysiology of the disease; however, it seems to be caused by vasospasm of the vessels [ 2 ]. There have also been numerous studies showing a possible connection between pernio and the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2); however, no concrete relationship has been established thus far [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

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A Case of Longstanding Idiopathic Pernio/Chilblain Disease

Maraj¹,

Barak-Norris²

2021

Cureus

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Pernio, also known as chilblains, presents as erythematous macules at sites of cold exposure, mainly in women. It is a diagnosis that is often overlooked, and when suspecting a patient with pernio, other conditions such as lupus nephritis and Raynaud's must be ruled out. A 46-year-old lady presented to the clinic with skin findings suggestive of pernio. She had erythematous macules on the dorsum of her hands, which appeared during cold weather and lasted for three weeks. She had been suffering with this condition for over 18 years and nothing has helped her condition, other than preventing cold exposure. There are limited treatment options for pernio, and current management includes using steroids, calcium-channel blockers and cold avoidance. Current research has suggested that pernio could also be linked to the severe acute respiratory syndrome coronavirus 2.

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Cutaneous Disorders Masking Celiac Disease: Case Report and Mini Review with Proposal for a Practical Clinical Approach

Ancona,

Bianchin,

Zampatti

et al. 2023

Nutrients

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Celiac disease (CD) is an immune-mediated systemic gluten-related disorder characterized by a wide spectrum of intestinal and extra-intestinal manifestations, including damage to cutaneous and connective tissue. We report a rare case of chronic severe dermatitis involving connective tissue and cutaneous vascular vessels as the main clinical presentation of undiagnosed seronegative gluten disorder. A gluten-free diet dramatically improved the intestinal and cutaneous clinical damage in the patient. Pitfalls and the steps of differential diagnosis are described. We also review the literature regarding studies of CD and connective tissue diseases to extend the knowledge of these rare associations. We propose a practical diagnostic approach in suspected CD in autoimmune cutaneous disorders.

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Pernio as the clinical presentation of celiac disease: A case report

Cited by 3 publications

References 18 publications

From Chilblains (Pernio) to Coeliac Disease—Should We Still Consider It Random?

From Chilblains (Pernio) to Coeliac Disease—Should We Still Consider It Random?

A Case of Longstanding Idiopathic Pernio/Chilblain Disease

Cutaneous Disorders Masking Celiac Disease: Case Report and Mini Review with Proposal for a Practical Clinical Approach

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