A nine-year old girl was referred to our clinic with the suspicion of coeliac disease. She was initially presented to rheumatologist and dermatologist due to the complaints of feeling coldness in her legs with redness on toes and fingers. She didn’t have any other symptoms. There were no problems with digestive system, she had good appetite, regular stools and did not complain of any abdominal pain.
Otherwise, she was born from a normal pregnancy and childbirth, was an only child in the family and was previously healthy. Her mother had thrombophilia, and father has Barrett’s esophagus.
After the examination of dermatologist, the diagnosis of pernio was set, and additional rheumatologic workup was proposed. Pernio, or chilblains, is an inflammatory condition precipitated by cold temperature affecting acral sites with tender erythemato-violaceous macules, papules or nodules. Lesions can also blister or ulcerate. It is generally idiopathic, but secondary causes have been described. In the literature search, we found two case-reports of chilblains as clinical presentation of celiac disease (Lemieux A, 2020; St Clair NE, 2006). Therefore, as a part of the diagnostic workup, among other tests, a screening for coeliac disease was performed, with the following results: normal total IgA and tTG-IgA of 38 U/mL (positive >7). All other rheumatologic workup was normal. The girl was then referred to our gastroenterology department. Endoscopy was performed, and the pathohistological finding in the biopsy specimens were consistent with the diagnosis of Marsh stage IIIC (total villous atrophy).
Due to all of the above, the diagnosis of coeliac disease was confirmed and strict gluten-free diet was started.
After 3 months, the coeliac-specific serology is declining, our patient has no symptoms related to digestive system, and her skin lesions are improving.
Figures 1-4. Erythematous and livid macules on the distal portion of the fingers at the initial presentation of the patient.
Figures 5-6. Erythematous macules on the distal portion of the toes at the initial presentation of the patient.
Lemieux A, Sanchez Vivas NE, Powell J, Jantchou P, Morin MP. Pernio as the clinical presentation of celiac disease: A case report. SAGE Open Med Case Rep. 2020 Jul 10;8:2050313X20940442. doi: 10.1177/2050313X20940442. PMID: 32699633; PMCID: PMC7357047.
St Clair NE, Kim CC, Semrin G, Woodward AL, Liang MG, Glickman JN, Leichtner AM, Binstadt BA. Celiac disease presenting with chilblains in an adolescent girl. Pediatr Dermatol. 2006 Sep-Oct;23(5):451-4. doi: 10.1111/j.1525-1470.2006.00281.x. PMID: 17014640.