Phakomatosis pigmentokeratotica Phacomatosis pigmentokeratotica (without extracutaneous abnormalities)-a)(A) Showed hyperkeratosis, moderate papillomatosis and acanthosis b) immature and inceased sebaceous glands were observed Specialty Dermatology
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
References
↑ "Phacomatosis pigmentokeratotica | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Archived from the original on 29 June 2019. 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 .
External links
Classification External resources
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