Abstract
Sjoegren-Larsson Syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis after birth, spastic di- or tetraplegia, mental retardation and complete or incomplete reduction in fatty aldehyde dehydrogenase (FALDH) activity, the gene localized on chromosome 17p11.2. Three days after birth we saw a collodium baby of consanguine parents with erythrodermia and hyperkeratosis of palms and soles. In the age of 3,5 the boy developed a spastic of the leg, mental retardation, hyperkeratosis and desquamation in the neck, flank and flexural parts of the body. A biopsy at the age of 8 years revealed acanthosis, a reduced stratum granulosum and a hyperkeratotic puffed up stratum corneum. Electromicroscopy showed an intact stratum spinosum, intact hyaline granules in stratum granulosum, a partially irregular drop out of keratinosomes, no lipid droplets, no cholesterin gaps and no membrane staples. Enzymatic analysis of fibroblast cultures from the boy resulted in reduced FALDH-activity. Mutation analysis in lymphocytes showed homozygous complex mutations with the transversion 901G→C and a nucleotide deletion 906delT. The same complex mutation was found in the heterozygote state in father and mother. This is the second report about this complex mutation in the FALDH cDNA in SLS.
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