Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis

Pediatr Dermatol. 2015 Sep-Oct;32(5):e219-20. doi: 10.1111/pde.12634. Epub 2015 Jul 2.

Abstract

Buschke-Ollendorff syndrome is a rare autosomal dominant disorder caused by loss of function in LEMD3, resulting in connective tissue nevi and varying bone dysplasia. Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12 + 1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Adolescent
  • DNA-Binding Proteins
  • Diagnosis, Differential
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Melorheostosis / diagnosis
  • Melorheostosis / genetics*
  • Membrane Proteins / genetics*
  • Mutation*
  • Nuclear Proteins / genetics*
  • Osteopoikilosis / diagnosis
  • Osteopoikilosis / genetics*
  • Prognosis
  • RNA Splice Sites / genetics
  • Rare Diseases
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / genetics*

Substances

  • DNA-Binding Proteins
  • LEMD3 protein, human
  • Membrane Proteins
  • Nuclear Proteins
  • RNA Splice Sites

Supplementary concepts

  • Buschke-Ollendorff syndrome