Sjogren-Larsson-Syndrom

Translated title of the contribution: Sjogren-Larsson Syndrome

Matthias Möhrenschlager, William B. Rizzo, Cornelia S. Krausn, Johannes Limbrock, Monika Cohen, Ingrun Anton-Lamprecht, Dietrich Abeck, Johannes Ring

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The causative biochemical defect has been identified as a deficiency of the enzyme fatty aldehyde dehydrogenase, a component of fatty alcohol: NAD+ oxidoreductase. We present a case report of an affected 3.5 year old white girl to give an overview of the pre- and postnatal diagnostic procedures as well as of therapeutic options.

Original languageGerman
Pages (from-to)250-255
Number of pages6
JournalHautarzt
Volume51
Issue number4
DOIs
StatePublished - Apr 2000

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long-chain-alcohol dehydrogenase
Sjogren-Larsson Syndrome
Neurocutaneous Syndromes
Ichthyosis
Quadriplegia
Cerebral Palsy
Intellectual Disability
Enzymes
Therapeutics

Keywords

  • Congenital ichthyosis
  • Mental retardation
  • Spastic plegia

ASJC Scopus subject areas

  • Dermatology

Cite this

Möhrenschlager, M., Rizzo, W. B., Krausn, C. S., Limbrock, J., Cohen, M., Anton-Lamprecht, I., ... Ring, J. (2000). Sjogren-Larsson-Syndrom. Hautarzt, 51(4), 250-255. https://doi.org/10.1007/s001050051113

Sjogren-Larsson-Syndrom. / Möhrenschlager, Matthias; Rizzo, William B.; Krausn, Cornelia S.; Limbrock, Johannes; Cohen, Monika; Anton-Lamprecht, Ingrun; Abeck, Dietrich; Ring, Johannes.

In: Hautarzt, Vol. 51, No. 4, 04.2000, p. 250-255.

Research output: Contribution to journalArticle

Möhrenschlager, M, Rizzo, WB, Krausn, CS, Limbrock, J, Cohen, M, Anton-Lamprecht, I, Abeck, D & Ring, J 2000, 'Sjogren-Larsson-Syndrom', Hautarzt, vol. 51, no. 4, pp. 250-255. https://doi.org/10.1007/s001050051113
Möhrenschlager M, Rizzo WB, Krausn CS, Limbrock J, Cohen M, Anton-Lamprecht I et al. Sjogren-Larsson-Syndrom. Hautarzt. 2000 Apr;51(4):250-255. https://doi.org/10.1007/s001050051113
Möhrenschlager, Matthias ; Rizzo, William B. ; Krausn, Cornelia S. ; Limbrock, Johannes ; Cohen, Monika ; Anton-Lamprecht, Ingrun ; Abeck, Dietrich ; Ring, Johannes. / Sjogren-Larsson-Syndrom. In: Hautarzt. 2000 ; Vol. 51, No. 4. pp. 250-255.
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