The Sjogren-Larsson Syndrome

Pathological Findings in One of Two Siblings with Sjögren-Larsson Syndrome

“…The family distribution of the cases agrees with a recessive autosomal inheritance, and macular degeneration was observed in both the cases, as described in 20% o f the patients (3,10,11). Clinical and genetic features of the ichthyosis are similar to those of congenital ichthyosiform erithroderma (3,15) although the histologic examination o f the hyperkeratotic skin in one of the cases revealed neither acan thosis nor hypergranulosis, and therefore must be classified, on a his to pathological basis, as ichthyosis vulgaris. Ichthyosis vulgaris,however, is not congenital, and has dominant autosomal inheritance (3,15).…”

“…Clinical and genetic features of the ichthyosis are similar to those of congenital ichthyosiform erithroderma (3,15) although the histologic examination o f the hyperkeratotic skin in one of the cases revealed neither acan thosis nor hypergranulosis, and therefore must be classified, on a his to pathological basis, as ichthyosis vulgaris. Ichthyosis vulgaris,however, is not congenital, and has dominant autosomal inheritance (3,15). A similar discrepancy has already been referred by other authors.…”

Diffuse Choroidal Atrophy and Klinefelter Syndrome

“…An unusual retinal finding in this patient was the presence of golden crystalline deposits at variable depths in the neurosensory retina. Intraretinal crystalline bodies have been reported in a number of syndromes such as Sjogren-Larsson syndrome (Gilbert et al 1968), Bietti's tapetoretinal degeneration with marginal corneal dystrophy (Bagolini & Ioli-Spada 1968), primary oxyluria (Gass 1977), oxalosis in cases of renal failure after methoxyflurane anaesthesia (Gass 1977), etc. In the present case, we were not able to explain the nature of the golden crystalline bodies.…”

Sjörgen-Larsson-Syndrom

“…Das SLS ist eine ubiquitär auftretende, neurokutane Erkrankung mit autosomal-rezessivem Erbgang, die 1957 erstmalig von den schwedischen Psychiatern Sjögren und Larsson bei 28 Patienten als eigenständiges Krankheitsbild beschrieben wurde [31]. Die höchste Prävalenz findet sich in der nordschwedischen Region Västerbotten mit 8,3 auf 100.000 Einwohnern (Prävalenz in Gesamt-Schweden 0,4 auf 100.000) [7]. Die höchste Prävalenz findet sich in der nordschwedischen Region Västerbotten mit 8,3 auf 100.000 Einwohnern (Prävalenz in Gesamt-Schweden 0,4 auf 100.000) [7].…”