Sjögren-larsson syndrome Q87.13

Autosomal recessive, rare, syndromal ichthyosis with combination of oligophrenia, ichthyosis, central coordination disorder usually in the form of spastic di-, rarely tetraplegia.

Autosomal recessive mutations of the ALDH3A2 gene(aldehyde dehydrogenase 3 A2 gene; gene locus: 17p11.2) with consecutive reduction in activity of the fatty alcohol NAD+ oxidoreductase complex(FALDH), especially dehydrogenase. This results in an increase of fatty alcohols and fatty aldehydes in plasma.

Skin changes corresponding to ichthyosis congenita, hypohidrosis, di- or tetraplegia, short stature, oligophrenia, skeletal, dental and retinal changes can occur.

Variable clinic with oligophrenia, generalized ichthyosis (up to the development of erythroderma), progressive cerebral tonus and movement disorders (diplegia, tetraplegia) and speech disorders. In individual cases eye fundus anomalies, especially retinitis pigmentosa and macular degeneration as well as glistening spots.

Further associations are thoracic kyphosis, epilepsy or oligoepilepsy, gingivitis and periodontitis, enamel defects, degenerative stigmas like hypertelorism or epicanthus.

Clinical presentation with syndromal symptoms; molecular genetic diagnosis with wet detection of the mutation.

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