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Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
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Multifocal infantile myofibromatosis and generalized fibromuscular dysplasia in a child: evidence for a common

Corrina Wright1, Martin T Corbally, Roisin Hayes

  • 1Department of Pathology, Our Ladys Hospital for Sick Children, Crumlin, Dublin, Ireland.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|October 1, 2004
PubMed

Insights

Infantile myofibromatosis (IM) and fibromuscular dysplasia (FMD) share pathological features. This case suggests IM and FMD may represent a spectrum of vascular myofibroblastic proliferations.

Area of Science:

  • Vascular Pathology
  • Pediatric Oncology
  • Genetics

Background:

  • Infantile myofibromatosis (IM) presents as spindle cell tumors in various tissues.
  • Fibromuscular dysplasia (FMD) is an arteriopathy causing luminal compromise and aneurysms.
  • Large vessel involvement in IM is rarely reported, unlike small vessel involvement.

Observation:

  • A patient diagnosed with infantile myofibromatosis (IM) at birth developed generalized fibromuscular dysplasia (FMD).
  • The patient's IM presented with multiple soft tissue tumors.
  • The subsequent FMD was generalized and ultimately fatal.

Findings:

  • Both IM and FMD share overlapping pathological features, notably intimal fibroplasia.
  • This case highlights the potential for a single individual to manifest both conditions.
  • The co-occurrence suggests a potential link between these distinct vascular conditions.

Implications:

  • This case may offer new insights into the pathogenesis of both IM and FMD.
  • It suggests that IM and FMD could be part of a broader spectrum of vascular myofibroblastic proliferations.
  • Further research into shared pathways could elucidate the development of these vascular disorders.

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