From darkness to diagnosis: finding answers after birth in a case of generalised myofibromatosis

Generalised myofibromatosis is a rare disorder of early childhood caused by germline PDGFRB mutations and marked by multiple myofibroblastic tumours involving the skin, soft tissues and sometimes visceral organs. 1 Although some lesions can regress, visceral disease, often requires closed monitoring and intervention. Management can range from simple observation to surgery or systemic therapy, depending on the organs involved. 2