Hyaline Fibromatosis Syndrome Presenting as Abuse

Abstract

Hyaline fibromatosis syndrome (or HFS, subcategorized as infantile systemic hyalinosis and juvenile hyaline fibromatosis) has presenting clinical features that may overlap with findings typically identified in cases concerning for nonaccidental trauma. For example, hyperpigmentation over bony prominences (an early presenting finding seen in the most severe cases of HFS) can raise concern for bruising in young infants.

In the following case report, we describe a 13-week-old female who initially presented as a hospital consult to our forensic child abuse team with concerns for bruising and re-presented to our team as an emergency department consult at 10 months of age with anal lesions, raising concerns for sexual abuse.

Both findings are known clinical features of HFS, which was subsequently diagnosed in this patient via genetic testing. While HFS is a rare syndrome, paediatricians should be aware of the symptoms and clinical features to consider when presented with a case that may be mistaken for abuse.