Multiple pilomatrixomas in a paediatric patient leading to a diagnosis of familial adenomatous polyposis

We present the case of a four-year-old girl who presented in October 2015 with multiple tender lesions on her back, arms and neck. The lesions had a cystic appearance with punctum. The patient’s mother describes these lesions appearing on various locations of the patient’s body and face since she was a neonate. An excisional biopsy of one lesion on the upper back confirmed that it was a pilomatrixoma. There are rare case reports in the medical literature of multiple pilomatrixomas seen in people with Familial Adenomatous Polyposis (FAP) and myotonic dystrophy. The patient has no known family history of bowel cancer or muscular dystrophies and is otherwise a healthy young girl. The patient was referred to a specialist geneticist for genetic testing and a mutation was identified in the APC gene, which confirms a diagnosis of FAP.

Dr. Paul Stevenson