What question did this study set out to answer?

To analyze the diagnosis and management approaches for generalised myofibromatosis in early childhood.

February 22, 2026

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

Key Points

To analyze the diagnosis and management approaches for generalised myofibromatosis in early childhood.
Case analysis of a patient with generalised myofibromatosis
Identification of PDGFRB mutations
Evaluation of treatment options including observation, surgery, and systemic therapy.
Case reveals presence of PDGFRB mutations
Treatment strategies varied from observation to surgery
Visceral disease necessitated close monitoring and intervention.

Abstract

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

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Authors

Sofia Badran

Sagarika Tripathy

Pranav Dorwal

Journals

Pathology

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Building similarity graph...

Analyzing shared references across papers

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

Key Points

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

References and Citations

Citation Network

Connected Papers

Discussion

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