Acrokeratosis verruciformis

Acrokeratosis verruciformis
Other namesAcrokeratosis verruciformis of Hopf[1]
Acrokeratosis verruciformis has an autosomal dominant pattern of inheritance
SpecialtyMedical genetics Edit this on Wikidata

Acrokeratosis verruciformis is a rare autosomal dominant disorder appearing at birth or in early childhood, characterized by skin lesions that are small, verrucous, flat papules resembling warts along with palmoplantar punctate keratoses and pits.[2][3] However sporadic forms, whose less than 10 cases have been reported, presents at a later age, usually after the first decade and generally lack palmoplantar keratoses. Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like Darier's disease, it is associated with defects in the ATP2A2 gene.[4] however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.[5]

  1. ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ Freedberg IM, Eisen IZ, Wolff K, Austen F, Goldsmith LA, Katz S (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). New York: McGraw-Hill, Medical Pub. Division. ISBN 978-0-07-138076-8.
  3. ^ James WD, Berger T, Elston D (2006). Andrews' Diseases of the Skin : Clinical Dermatology (10th ed.). Philadelphia: Saunders Elsevier. ISBN 978-0-7216-2921-6.
  4. ^ Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, et al. (February 2003). "Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease". The Journal of Investigative Dermatology. 120 (2): 229–232. doi:10.1046/j.1523-1747.2003.t01-1-12045.x. PMID 12542527.
  5. ^ Gupta A, Sharma YK, Vellarikkal SK, Jayarajan R, Dixit V, Verma A, et al. (April 2016). "Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis". Journal of the European Academy of Dermatology and Venereology. 30 (4): 695–697. doi:10.1111/jdv.12983. PMID 25622760. S2CID 35181817.