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Erythrokeratodermia With Ataxia

Jean-Mario Giroux, MD, FRCP(C); André Barbeau, MD, FRCP(C), FACP
Arch Dermatol. 1972;106(2):183-188. doi:10.1001/archderm.1972.01620110019005.
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An apparently new neurocutaneous syndrome was observed in 25 members from over five generations in a family of French Canadian ethnic background. The syndrome is characterized by the appearance soon after birth, of papulosquamous erythematous plaques which have mild variations in intensity and which tend to subside during the summer months. In most cases, the cutaneous manifestations almost disappear near the age of 25, sometimes to reappear after the age of 40. At that time, a slowly progressive neurological syndrome, with decreased tendon reflexes, nystagmus, dysarthria, and severe gait ataxia, becomes the predominant feature. The syndrome is inherited in an autosomal dominant fashion.


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