Vohwinkel’s syndrome: Case report and review of literature
Abstract
Vohwinkel’s syndrome is a rare, autosomal dominant disorder of keratinization characterized by palmoplantar keratoderma and ainhum-like constrictions. We report herein a 20-year-old girl with palmoplantar hyperkeratosis with a honeycomb-like appearance, constricting band in her left little finger and nail changes. However, certain other features like deafness and neurological changes were not seen.References
Griffiths WAD, Judge MR, Leigh IM. Disorders of keratinization. Champion RH, Burton JL, Burns DA, Breathnach SM, eds. Textbook of Dermatology. 6th edn. Oxford: Blackwell Science; 1998. p. 1483-1588.
Stevens HP, Leigh IM. The inherited keratodermas of palms and soles. Freedberg IM, Eisen AZ, Wolff K et al., eds. Dermatology in general medicine. 5th edn. New York: McGraw-Hill; 1999. p. 603-13.
Lucker GPH, Van De Kerkhof PCM, Steijlen PM. The hereditary palmoplantar keratoses: an updated review and classification. Br J Dermatol 1994; 131:1-14.
Atherton DJ, Sutton C, Jones BM. Mutilating palmoplantar keratoderma with periorificial keratotic plaque) Olmsted’s syndrome. Br J Dermatol 1990; 122: 245-52.
Nesbitt LT, Rothschild H, Ichinose H et al. Acral keratoma. Arch Dermatol 1975; 111: 763-8.
Sybert VP, Dale BA, Holbrook KA. Palmar-plantar keratoderma. J Am Acad Dermatol 1988; 18: 75-86.
Gamborg Nielsen P. Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northern most county of Sweden. Clin Genet 1985; 28: 361-66.
Kastle I, Anton-Lamprech I, Gamborg Nielsen P. Hereditary palmoplantar keratosis of Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. Arch Dermatol Res 1990; 282: 363-70.
Vohwinkel KH. Keratoma hereditarium mutilans. Arch Dermatol Syphil 1929; 158: 354-64.
Vijaikumar M, Thappa DM, Jeevankumar B. An Indian case of keratoderma mutilans (Vohwinkel’s syndrome) associated with ichthyosiform dermatitis. J Dermatol 2001; 28: 560-3.
Maestrini E, Korge BP, Ocana-Sierra J et al. A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families. Hum Mol Genet 1999; 8: 1237-43.
O’ Driscoll J, Muston GC, McGrath JA et al. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol 2002; 27: 243-6.
Takayashi H, Ishida-Yamamoto A, Kishi A et al. Loricrin gene mutation in a Japanese patient of Vohwinkel’s syndrome. J Dermatol Sci 1999; 19: 44-7.
Rivers JK, Duke EE, Justus DW. Etretinate: management of keratoma hereditaria mutilans in four family members. J Am Acad Dermatol 1985; 13: 43-9.
Peris K, Salvati EF, Torlone G, Chimenti S. Keratoderma hereditarium mutilans (Vohwinkel’s syndrome) associated with congenital deaf-mutism. Br J Dermatol 1995; 132: 617-20.
Atabay K, Yavuzer R, Latifoglu O, Ozmen S. Keratoderma hereditarium mutilans (Vohwinkel syndrome): An unsolved surgical mystery. Plast Reconstr Surg 2001; 108: 1276-80.
Sensi A, Bettoli V, Zampino MR et al. Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies. Am J Med Genet 1994; 50: 201-3.
