View source for Medicine:Phakomatosis pigmentokeratotica

{{Infobox medical condition (new)
| name            = Phakomatosis pigmentokeratotica
| synonyms        = Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies <ref>{{cite web |title=Phacomatosis pigmentokeratotica {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |url=https://rarediseases.info.nih.gov/diseases/4311/index |website=rarediseases.info.nih.gov |accessdate=29 June 2019 |archive-date=29 June 2019 |archive-url=https://web.archive.org/web/20190629031120/https://rarediseases.info.nih.gov/diseases/4311/index |url-status=dead }}</ref>
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| field           = dermatology
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'''Phakomatosis pigmentokeratotica''' is a [[Medicine:Rare disease|rare]] neurocutanous condition  characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus.<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|634–5}}<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.</ref>{{rp|776}} It is an unusual variant of  epidermal naevus syndrome.<ref>{{cite journal|last1=Hill|first1=Virginia A|last2=Felix|first2=R H|last3=Mortimer|first3=P S|last4=Harper|first4=J I|title=Phacomatosis pigmentokeratotica|journal=Journal of the Royal Society of Medicine|date=2002|volume=96|issue=1|pages=30–31|issn=0141-0768|pmc=539370|pmid=12519801|doi=10.1177/014107680309600109}}</ref> It was first described by Happle ''et al''.<ref>{{cite journal|last1=Happle|first1=R|last2=Hoffmann|first2=R|last3=Restano|first3=L|last4=Caputo|first4=R|last5=Tadini|first5=G|title=Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome.|journal=American Journal of Medical Genetics|date=11 November 1996|volume=65|issue=4|pages=363–5|doi=10.1002/(SICI)1096-8628(19961111)65:4<363::AID-AJMG27>3.0.CO;2-R|pmid=8923953}}</ref> It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, [[Medicine:Deafness|deafness]], ptosis and [[Medicine:Strabismus|strabismus]].<ref>{{cite journal|last1=Tadini|first1=G|last2=Restano|first2=L|last3=Gonzáles-Pérez|first3=R|last4=Gonzáles-Enseñat|first4=A|last5=Vincente-Villa|first5=MA|last6=Cambiaghi|first6=S|last7=Marchettini|first7=P|last8=Mastrangelo|first8=M|last9=Happle|first9=R|title=Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome.|journal=Archives of Dermatology|date=March 1998|volume=134|issue=3|pages=333–7|pmid=9580120|doi=10.1001/archderm.134.3.333|doi-access=}}</ref>

== See also ==
* Skin lesion
* List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer

== References ==
{{reflist}}

== External links ==
{{Medical resources
|  ICD10           = Q85.8
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|  MeSH            = C537893
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|  Orphanet        = 2874
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[[Category:Rare diseases]]



{{Sourceattribution|Phakomatosis pigmentokeratotica}}