Toddler’s unexplained injuries lead to Australian-first skin fragility diagnosis

Initially thought to be signs of abuse, the child's multiple superficial erosions were actually caused by a rare subtype of epidermolysis bullosa.

A suspected child abuse case in a two-year-old girl turned out to be an Australian-first presentation of a rare epidermolysis bullosa subtype.

Doctors say their case is a reminder to keep an “open mind” when treating unexplained skin injuries as they may be caused by child abuse ‘mimics’ such as skin fragility disorders.

The patient came to the attention of clinicians and child protection authorities after presenting in distress following a minor fall in a childcare sandpit, the team reported in the Medical Journal of Australia.

Examination revealed large, superficial erosions in a kissing distribution on her medial buttocks.