Incontinetia pigmenti-related myopathy or unsolved “double trouble”?

Huttner, H.B.; Richter, G.; Jünemann, A.; Kress, W.; Weis, J.; Schröder, J.M.; Gal, A.; Doerfler, A.; Udd, B.; Schröder, R.

doi:10.1016/j.nmd.2009.12.006

« Previous Next »Neuromuscular Disorders
Volume 20, Issue 2 , Pages 139-141, February 2010

Incontinetia pigmenti-related myopathy or unsolved “double trouble”?

H.B. Huttner
- Department of Neurology, University of Erlangen, Germany
G. Richter
- Department of Neuroradiology, University of Erlangen, Germany
A. Jünemann
- Department of Ophthalmology, University of Erlangen, Germany
W. Kress
- Department of Human Genetics, University of Würzburg, Germany
J. Weis
- Department of Neuropathology, University of Aachen, Germany
J.M. Schröder
- Department of Neuropathology, University of Aachen, Germany
A. Gal
- Department of Human Genetics, University of Hamburg, Germany
A. Doerfler
- Department of Neuroradiology, University of Erlangen, Germany
B. Udd
- Neuromuscular Center, Tampere University Hospital and Folkhalsan Genetic Institute, University of Helsinki, Finland
R. Schröder
- Department of Neurology, University of Erlangen, Germany
- Department of Neuropathology, University of Erlangen, Germany
- Corresponding author. Address: Department of Neurology and Department of Neuropathology, University of Erlangen, Schwabachanlage 6, 91054 Erlangen, Germany. Tel.: +49 9131 85 44523; fax: +49 9131 8544576.

Received 24 August 2009; received in revised form 9 November 2009; accepted 14 December 2009.

Abstract

Incontinentia pigmenti is an X-linked dominant or sporadic multisystemic disorder with involvement of skin, eyes and central nervous system which results from mutations in the gene for NF-kappaB essential modulator (NEMO). We report on a patient with genetically confirmed Bloch–Sulzberger syndrome, who presented with a progressive myopathy and cardiomyopathy. Genetic analyses revealed an intragenic deletion (Intron3 and Exon10) of the NEMO/IKKγ/IKKAP/IKBKG gene. Further complete sequencing of genes encoding for desmin, lamin A/C, emerin, and FHL1 showed no evidence of pathogenic mutations. A pathological expansion of CCTG repeats of the ZNF9 gene (PROMM) was ruled out by PCR amplification analysis. MLPA-analysis showed no evidence for duplications or deletions of the dystrophin gene. This report highlights the unusual combination of a genetically confirmed incontinentia pigmenti and a proximal myopathy and dilatative cardiomyopathy of unknown origin. We discuss that the striated muscle involvement (i) might be based on the observed intragenic deletion of the NEMO gene, or (ii) on an additional gene defect leading to an adult onset myopathy. Further studies on neuromuscular involvement in patients with incontinentia pigmenti are needed to clarify this issue.

Keywords: Bloch–Sulzberger syndrome, Incontinentia pigmenti, NEMO, Myopathy