From Wikipedia, the free encyclopedia
Medical condition
Phakomatosis pigmentokeratotica Other names Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies
Specialty
Dermatology
Phakomatosis pigmentokeratotica is a
rare
neurocutanous condition characterized by the combination of an
organoid sebaceous nevus and
speckled lentiginous nevus .
[1] : 634–5
[2] : 776 It is an unusual variant of
epidermal naevus syndrome .
[3] It was first described by Happle et al .
[4] 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 .
[5]
See also
References
^ 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 .
External links
Classification External resources