Aphthous Ulcers—The First Sign of Celiac Disease?

Consultations & Comments

I read Dr Alexander K. C. Leung’s What’s Your Diagnosis? feature “6-Year-Old Girl With Painful Oral Lesion” (CONSULTANT FOR PEDIATRICIANS, October 2011, page 357-360) and would like to point that aphthous ulcers may be the only manifestation of celiac disease. GI symptoms develop later.
—— MD

I agree with the reader’s comment that aphthous ulceration, while an uncommon manifestation of celiac disease, may, rarely, be the first sign of the immune-mediated enteropathy. Celiac disease is caused by permanent sensitivity to gliadin, the alcohol-soluble portion of gluten that is present in wheat, barley, and rye.¹ Genetic, environmental, and immunological factors play a role in its pathogenesis.

Typical features of celiac disease include chronic diarrhea, abdominal bloating, weight loss, and muscle wasting. These features tend to occur early in life, within weeks to months of the introduction of a gluten-containing diet.² Atypical features occur in patients with later onset of disease (especially in those older than 5 years) and include nausea, vomiting, abdominal pain, constipation, short stature, delayed puberty, anemia, dental enamel defects, and aphthous ulceration.^2,3 Kuloglu and colleagues⁴ reviewed the clinical features of 109 children with celiac disease. The most frequent symptom was diarrhea (53.2%), followed by failure to thrive (45.9%), short stature (42.2%), abdominal pain (40.4%), fatigue (27.5%), abdominal distension (26.6%), paleness (23.9%), vomiting (12.8%), pica (6.4%), nausea (5.5%), delayed puberty (5.5%), irritability (2.8%), constipation (2.7%), alopecia areata (1.8%), and recurrent oral ulcers (1.8%).⁴

As I stated in my What’s Your Diagnosis? feature, aphthous-like ulceration can be found in systemic disorders, including celiac disease (gluten-sensitive enteropathy), Behçet disease, Reiter disease, Crohn disease, ulcerative colitis, immunodeficiency syndromes (such as cyclic neutropenia or HIV infection), PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome, MAGIC (mouth and genital ulcers with inflamed cartilage) syndrome, and Sweet syndrome (acute febrile neutrophilic dermatosis).⁵

The 6-year-old girl I described is a healthy child with idiopathic aphthous stomatitis. In such patients, one should keep the above associated conditions in mind and look for other tell-tale manifestations of systemic disease.

—— Alexander K. C. Leung, MD
Clinical Professor of Pediatrics
University of Calgary
Pediatric Consultant
The Alberta Children’s Hospital