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Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence
  1. Cheng-Hiang Lee1,
  2. Roy A J Spence1,
  3. Meena Upadhyaya2,
  4. Patrick J Morrison3
  1. 1Belfast HSC Trust, Belfast, UK
  2. 2Institute of Medical Genetics, Cardiff, UK
  3. 3Department of Medical Genetics, Belfast HSC Trust, Belfast, UK
  1. Correspondence to Patrick John Morrison, patrick.morrison{at}belfasttrust.hscni.net

Summary

Familial multiple lipomatosis is rare. Several modes of inheritance have been proposed but no conclusive evidence shown, although some families have suggested autosomal dominant inheritance. The authors describe a family with multiple lipomatosis showing clear autosomal dominant inheritance, and no mutations within the NF1, SPRED1 or Cowden disease (PTEN) genes. Familial autosomal dominant lipomatosis is a rare but distinct entity.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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