Phakomatosis pigmentokeratotica
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]
| Phakomatosis pigmentokeratotica | |
|---|---|
| Other names | Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies [1] |
| Specialty | Dermatology |
See also
References
- "Phacomatosis pigmentokeratotica | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 29 June 2019.
- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- 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.
- 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.
- 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.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.