Vohwinkel syndrome

Definition:

Vohwinkel syndrome is a diffuse palmoplantar keratoderma associated with sensorineural deafness. One of the identifiable characteristics of the disorder is the constriction bands of the digits, leading to autoamputation (pseudoainhum). Vohwinkel syndrome is caused by GJB2 mutations, and its variant that is linked to loricrin also has a feature of ichthyosis.

References:

[1]. Akemi Ishida-Yamamoto, et al. Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. J Dermatol Sci. 2003 Feb;31(1):3-8. [Content Brief]

[2]. B P Korge, et al. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. J Invest Dermatol. 1997 Oct;109(4):604-10. [Content Brief]

[3]. E Maestrini, et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet. 1999 Jul;8(7):1237-43. [Content Brief]

[4]. Jack R Lee, et al. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009 Nov 19;11:e35. [Content Brief]

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