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Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system—a novel entity?

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Abstract

The skin and the central nervous system are tissues of common ectodermal origin and share a close ontogenetic relationship. Genetic diseases primarily affecting both organ systems are regularly encountered in both dermatological and neurological settings. Here, we report on a boy with epileptic encephalopathy, severe intellectual disability, optic atrophy, and progressive cerebellar and supratentorial atrophy, reminiscent of progressive encephalopathy with edema and hypsarrythmia (PEHO) syndrome displaying a previously undescribed dyschromatosis in the form of progressive reticulate and mottled hyper- and hypopigmentation of the neck and the inguinal and axillary regions. We hypothesised that this combination of neurological and cutaneous findings has a common aetiology and represents a novel recognisable entity. Because of the unusual dermatological findings, we suggest the term dyschromatosis ptychotropica. Recognition of further cases may help elucidate the aetiology of this condition and give insight into the pathophysiology of both pigmentation disorders and epileptic encephalopathies.

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Conflict of interest

We declare that we have no conflict of interest.

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Authors and Affiliations

  1. Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, Arnold-Heller-Str. 3, Haus 9, 24105, Kiel, Germany

    Ingo Helbig, Andreas van Baalen, Hiltrud Muhle & Ulrich Stephani

  2. Department of Dermatology, University Medical Center Schleswig-Holstein, Kiel Campus, Schittenhelmstr. 7, 24105, Kiel, Germany

    Regina Fölster-Holst & Jochen Brasch

  3. Department of Dermatology, University Hospital Heidelberg, Voßstr. 2, 69115, Heidelberg, Germany

    Ingrid Hausser

  4. Department of Neuroradiology, University Medical Center Schleswig-Holstein, Arnold-Heller-Str. 3, Haus 9, 24105, Kiel, Germany

    Karsten Alfke

  5. Department of Human Genetics, University Medical Center Schleswig-Holstein, Arnold-Heller-Str. 3, Haus 10, 24105, Kiel, Germany

    Almuth Caliebe

  6. Department of Dermatology, Philipp University of Marburg, Deutschhausstr. 9, 35033, Marburg, Germany

    Rudolf Happle

Authors
  1. Ingo Helbig
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  2. Regina Fölster-Holst
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  3. Jochen Brasch
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  4. Ingrid Hausser
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  5. Andreas van Baalen
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  6. Hiltrud Muhle
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  7. Karsten Alfke
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  8. Almuth Caliebe
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  9. Ulrich Stephani
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  10. Rudolf Happle
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Correspondence to Ingo Helbig.

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Helbig, I., Fölster-Holst, R., Brasch, J. et al. Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system—a novel entity?. Eur J Pediatr 169, 495–500 (2010). https://doi.org/10.1007/s00431-009-1046-5

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  • DOI: https://doi.org/10.1007/s00431-009-1046-5

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