Olmsted syndrome

Definition:

Olmsted syndrome (OLMS) is a very rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching.

References:

[1]. Alireza Haghighi, et al. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol. 2013 Feb;133(2):571-3. [Content Brief]

[2]. Sabine Duchatelet, et al. Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol. 2019 Feb;139(2):380-390. [Content Brief]

[3]. Zhimiao Lin, et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet. 2012 Mar 9;90(3):558-64. [Content Brief]

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