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- Title
(1) Refsum's syndrome.
- Authors
Lanigan, S. W.
- Abstract
This article presents the case study of a person suffering from Refsum's disease. The patient had a history of dry, scaly skin on the feet, and for a few months the hands and knees have been scaly. Ichthyosis was initially diagnosed. There is also a past history of progressive visual impairment since childhood. The skin on the palms and soles is dry, and there is scaling on the hands and knees. There are constricted pupils and tunnel vision. Visual acuity in the left and right eyes is 6/60, and retinitis pigmentosa is present. Refsum's disease has been diagnosed and he has started on a low phytanic acid diet. The association of ichthyosis with Refsum's syndrome is well recognized.
- Subjects
SKIN diseases; EPHEMERIDAE; VISION disorders; ICHTHYOSIS; DIET in disease; RETINITIS pigmentosa
- Publication
British Journal of Dermatology, 1983, Vol 109, p51
- ISSN
0007-0963
- Publication type
Case Study
- DOI
10.1111/j.1365-2133.1983.tb11609.x