Ann Dermatol.
1995 Jan;7(1):71-74. 10.5021/ad.1995.7.1.71.
A Case of Sjögren-Larsson Syndrome
- KMID: 2361418
- DOI: http://doi.org/10.5021/ad.1995.7.1.71
Abstract
- Sjögren-Larsson syndrome(SLS) is a rare hereditable disease characterized by congenital ichthyosis, spastic diplegia and mental retardation. Along with the typical triad of symptoms, many patients with this disease have short stature, kyphosis and glistening dots in the retina of the eye. The pathogenesism is unknown but recent studies suggest that SLS might be, at least in part, a disorder of fatty acid metabolism. We describe a patient with a pathognomonic finding in the fundus and with the classic features of SLS.
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