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

Area of Science:

• Immunology
• Gastroenterology
• Dermatology

Background:

• Coeliac disease (CD) is an immune-mediated inflammatory condition triggered by gluten in genetically susceptible individuals.
• CD presents with diverse gastrointestinal and extraintestinal symptoms.
• Dermatitis herpetiformis is the most recognized skin manifestation of CD.

Observation:

• Pernio (chilblains) is an inflammatory skin condition typically linked to cold exposure.
• This report details a patient diagnosed with both pernio and CD.
• The patient exhibited total villous atrophy, a severe intestinal lesion, with only two prior reported cases in association with CD.

Findings:

• A case of pernio co-occurring with newly diagnosed coeliac disease and total villous atrophy is presented.
• This association is rare, with only two similar cases documented in medical literature.
• The findings highlight a potential, albeit uncommon, link between pernio and significant intestinal damage in CD.

Implications:

• Active case finding for coeliac disease, including serological testing, should be considered in the workup of pernio in children.
• This approach may facilitate earlier diagnosis of CD, potentially preventing long-term complications.
• Further research into the dermatological manifestations of CD beyond dermatitis herpetiformis is warranted.