Sjörgen-Larsson-Syndrom

Möhrenschlager, Matthias; Rizzo, William B.; Kraus, Cornelia; Limbrock, Johannes; Cohen, Monika; Anton‐Lamprecht, I.; Abeck, Dietrich; Ring, Johannes

doi:10.1007/s001050051113

Cited by 7 publications

(6 citation statements)

References 27 publications

(14 reference statements)

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“…For example, the diagnosis of Comèl‐Netherton syndrome can be made by the detection of specific mutations in the SPINK5 gene by chorionic villus biopsy [30]. In Sjögren‐Larsson syndrome it is also possible to measure the enzyme activity of fatty aldehyde dehydrogenase in amniotic cells, chorionic villi and fetal fibroblasts [31]. Further comprehensive information as well as contact addresses of centers offering special diagnostics can be found on the homepage of the ichthyosis network, NIRK (http://www.netzwerk-ichthyose.de).…”

Section: Diagnostic Approachmentioning

confidence: 99%

Ichthyoses – Part 1: Differential diagnosis of vulgar ichthyoses and therapeutic options

Krug

Oji

Traupe

et al. 2009

J Deutsche Derma Gesell

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Ichthyoses are a group of genetic disorders with defective cornification, clinically characterized by scaling of the skin. Additionally, distinctive cutaneous inflammation can often be observed. For most of the patients these diseases lead to a significant restriction in quality of life. The diagnostic criteria include clinical and histological findings, often confirmed by specialized tests. Because many of the ichthyoses are extremely rare, their accurate diagnosis is often carried out in specialized centers. We summarize isolated vulgar and congenital ichthyoses both with and without associated symptoms and focus on the common genetic changes and their clinical phenotype. Specific therapies are still not available for most of these genetic disorders. The use of different topical agents (e. g. urea, retinoids and salicylic acid) and baths followed by mechanical keratolysis (sometimes in combination with systemic retinoids) reduce symptoms. Patients with uncommon congenital ichthyoses often benefit from interdisciplinary management which involves specialized dermatological centers. In this first part of the paper the vulgar ichthyoses as well as the diagnostic and therapeutic options are discussed. The second part focuses on the congenital ichthyoses and their differential diagnosis.

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Section: Diagnostic Approachmentioning

confidence: 99%

Ichthyoses – Part 1: Differential diagnosis of vulgar ichthyoses and therapeutic options

Krug

Oji

Traupe

et al. 2009

J Deutsche Derma Gesell

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“…Der Nutzen einer fettarmen Diät mit Substitution von mittellangkettigen und mehrfach ungesät-tigten Fettsäuren wurde wegen des zugrunde liegenden Enzymmangels postuliert, konnte jedoch nie gesichert werden [5]. Die Lokaltherapie der Ichthyose wurde in unserem Fall mit 5 Milchsäure in Unguentum Cordes durchgeführt.…”

Section: Weitere Diagnostikunclassified

Lichenifikation der großen Beugen, Tetraspastik und mentale Retardierung

et al. 2006

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“…We were privileged to see a 3.5‐year‐old girl, the first child of nonconsanguineous parents, who had SLS (7). She had been delivered spontaneously at gestational week 36.…”

Section: Clinical Features Of Sls (8)mentioning

confidence: 99%