Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.


Total: 2

                       


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PMID (PMCID)
20064724
 FEMALE Middle Aged
Incontinetia pigmenti-related myopathy or unsolved "double trouble"?
Huttner HB, Richter G, Junemann A, Kress W, Weis J, Schroder JM, Gal A, Doerfler A, Udd B, Schroder R.
Neuromuscul Disord. 2010;20(2):139-41.
This report highlights the unusual combination of a genetically confirmed incontinentia pigmenti and a proximal myopathy and dilatative cardiomyopathy of unknown origin.
20064724
 FEMALE Middle Aged
Incontinetia pigmenti-related myopathy or unsolved "double trouble"?
Huttner HB, Richter G, Junemann A, Kress W, Weis J, Schroder JM, Gal A, Doerfler A, Udd B, Schroder R.
Neuromuscul Disord. 2010;20(2):139-41.
We report on a patient with genetically confirmed Bloch-Sulzberger syndrome, who presented with a progressive myopathy and cardiomyopathy.