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Interleukin‐10 receptor mutation presenting with severe nappy ulceration and infantile inflammatory bowel disease
Author(s) -
McDonald B. S.,
Narayanan S.,
Elawad M.,
Kiparissi F.,
Cullup T.,
Batta K.
Publication year - 2017
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13157
Subject(s) - medicine , inflammatory bowel disease , ulcerative colitis , immunodeficiency , disease , dermatology , immunology , immune system
Summary Inflammatory bowel disease ( IBD ) can be divided into Crohn disease, ulcerative colitis and inflammatory bowel disease unclassified ( IBDU ). In most patients, these disorders present in adolescence or early adulthood. Patients with infantile IBD can have an associated underlying immunodeficiency disorder caused by a mutation in interleukin ( IL )‐10 or its receptor. We describe a child presenting with intractable bloody diarrhoea since 2 weeks of age and with severe nappy ulceration, who was ultimately diagnosed as having inflammatory bowel disease ( IBD ) due to an immunodeficiency in the IL ‐10 receptor. This report highlights the importance of considering this rare immunodeficiency in patients with infantile IBD presenting with severe perianal disease to a dermatologist.