Medicine:Phakomatosis pigmentokeratotica

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Phakomatosis pigmentokeratotica
Other namesOrganoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies [1]
SpecialtyDermatology

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

  • Skin lesion
  • List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer

References

  1. ↑ "Phacomatosis pigmentokeratotica | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/4311/index. Retrieved 29 June 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. 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 et al. (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. 

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