Phakomatosis Pigmentokeratotica
Get Phakomatosis Pigmentokeratotica essential facts below. View Videos or join the Phakomatosis Pigmentokeratotica discussion. Add Phakomatosis Pigmentokeratotica to your topic list for future reference or share this resource on social media.
Phakomatosis Pigmentokeratotica
Phakomatosis pigmentokeratotica
Other namesOrganoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies [1]

Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus.[2]:634-5[3]:776 It is an unusual variant of epidermal naevus syndrome.[4] It was first described by Happle et al.[5] It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, deafness, ptosis and strabismus.[6]

See also


  1. ^ "Phacomatosis pigmentokeratotica | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". Retrieved 2019.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  4. ^ Hill, Virginia A; Felix, R H; Mortimer, P S; Harper, J I (2002). "Phacomatosis pigmentokeratotica". Journal of the Royal Society of Medicine. 96 (1): 30-31. doi:10.1177/014107680309600109. ISSN 0141-0768. PMC 539370. PMID 12519801.
  5. ^ Happle, R; Hoffmann, R; Restano, L; Caputo, R; Tadini, G (11 November 1996). "Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome". American Journal of Medical Genetics. 65 (4): 363-5. doi:10.1002/(SICI)1096-8628(19961111)65:4<363::AID-AJMG27>3.0.CO;2-R. PMID 8923953.
  6. ^ Tadini, G; Restano, L; Gonzáles-Pérez, R; Gonzáles-Enseñat, A; Vincente-Villa, MA; Cambiaghi, S; Marchettini, P; Mastrangelo, M; Happle, R (March 1998). "Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome". Archives of Dermatology. 134 (3): 333-7. doi:10.1001/archderm.134.3.333. PMID 9580120.

External links

External resources

  This article uses material from the Wikipedia page available here. It is released under the Creative Commons Attribution-Share-Alike License 3.0.



Music Scenes