- Vohwinkel syndrome
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Vohwinkel syndrome Classification and external resources OMIM 124500 DiseasesDB 32216 eMedicine article/1108458 Vohwinkel syndome (also known as "Keratoderma hereditaria mutilans,"[1] "Keratoma hereditaria mutilans,"[1] "Mutilating keratoderma of Vohwinkel"[2]:213, "Mutilating palmoplantar keratoderma"[1]) is a diffuse autosomal dominant keratoderma with onset in early infancy characterized by a honeycombed keratoderma involving the palmoplantar surfaces.[3]:512 Mild to moderate sensorineural hearing loss is often associated.[3]:512
It has been associated with GJB2.[4]
It was characterized in 1929.[5]
See also
References
- ^ a b c Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 779. ISBN 1-4160-2999-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ a b Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ Maestrini E, Korge BP, Ocaña-Sierra J, et al. (July 1999). "A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families". Hum. Mol. Genet. 8 (7): 1237–43. doi:10.1093/hmg/8.7.1237. PMID 10369869. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=10369869.
- ^ Vohwinkel, K. H. Keratoma hereditarium mutilans. Arch. Derm. Syph. 158: 354-364, 1929.
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