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Related Experiment Video

Updated: May 29, 2026

Stromal Vascular Fraction-enriched Fat Grafting for the Treatment of Symptomatic End-neuromata
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Published on: November 23, 2017

Macrodystrophia lipomatosa involving multiple nerves.

Seema Rohilla1, Nitin Jain, Rambaksh Sharma

  • 1Department of Radiodiagnosis and Imaging, Postgraduate Institute of Medical Sciences, Pt. B.D. Sharma University of Health Sciences, Rohtak, 124001 Haryana, India.

Journal of Orthopaedics and Traumatology : Official Journal of the Italian Society of Orthopaedics and Traumatology
|September 28, 2011
PubMed
Summary
This summary is machine-generated.

Macrodystrophia lipomatosa, a rare congenital disorder, may be a localized form of Proteus syndrome. This is supported by the PTEN gene

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Published on: September 29, 2017

Area of Science:

  • Genetics
  • Developmental Biology
  • Dermatology

Background:

  • Macrodystrophia lipomatosa (MDL) is a rare congenital disorder.
  • MDL is sometimes considered a localized manifestation of Proteus syndrome.
  • The PTEN gene is implicated in both conditions.

Observation:

  • A case of MDL affecting multiple nerve territories on one side of the body is presented.
  • The affected areas showed hypertrophy of fibroadipose tissue.
  • This presentation suggests localized hemihypertrophy.

Findings:

  • The case exhibited features consistent with localized hemihypertrophy.
  • Lipomatous tumors and hemihypertrophy are characteristic components of Proteus syndrome.

Implications:

  • The findings support the hypothesis that MDL may be a localized form of Proteus syndrome.
  • The PTEN gene's role further strengthens the link between these conditions.
  • This case contributes to understanding the spectrum of Proteus syndrome.