The Sjögren-Larsson Syndrome

Abstract

In 1957, Sjögren and Larsson [18] reported on 28 patients belonging to 13 families who all lived in the North Swedish province of Västerbotten. These patients suffered from a syndrome characterized by pronounced congenital ichthyosis, severe mental retardation, and symmetric spastic pyramidal symptoms of the Little type. Sjögren and Larsson demonstrated consanguinity in eight of the 13 families. They concluded that the symptom complex they had observed represented a unique and new genetic disorder inherited as an autosomal recessive trait. Their findings were soon confirmed by many groups reporting cases from all over the world [3-5, 7, 15]. Two years after delineation of the syndrome by Sjögren and Larsson, Greither [4] pointed out that the association of ichthyosis, mental retardation, and spastic paresis of the Little type had already been described 30 years earlier in a very brief case report by Pardo-Castello and Faz [14] in 1932. Nevertheless, the condition rightfully bears the name of Sjögren and Larsson, since their tremendous work established the syndrome as a unique condition.