| 词条 | Phakomatosis |
| 释义 |
| name = Phakomatoses | synonyms = Phakomatosis | image = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Phakomatoses refers to a group of neuro-oculo-cutaneous syndromes or neurocutaneous disorders involving structures arising from the embryonic ectoderm. These multisystem disorders involve the ectodermal structures like central nervous system, skin and eyes.[1] The lesions have a variable severity.[2][3] However, it has been subsequently noted that mesodermal and endodermal tissues too are involved. A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.[4] ExamplesPhakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category.[5] Conditions included are:
EtymologyThe term, from the Greek φακός, phakos, "spot, lens", suffix-(o)ma (-ωμα) and the suffix -osis, also called "Mother's spot" or "Birth mark" was introduced by Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood.[6] References1. ^{{cite journal|last1=Neau|first1=JP|last2=Godeneche|first2=G|last3=Mathis|first3=S|last4=Guillet|first4=G|title=Neurodermatology.|journal=Handbook of clinical neurology|date=2014|volume=121|pages=1561–94|pmid=24365436|doi=10.1016/B978-0-7020-4088-7.00104-8}} 2. ^{{cite book|author1=Arthur Rook|author2=Tony Burns (FRCP.)|title=Rook's textbook of dermatology|url=https://books.google.com/books?id=t2tERO4tAg8C&pg=SA5-PA69|accessdate=27 October 2010|year=2004|publisher=Wiley-Blackwell|isbn=978-0-632-06429-8|pages=5–}} 3. ^{{cite journal|last1=Barbagallo|first1=JS|last2=Kolodzieh|first2=MS|last3=Silverberg|first3=NB|last4=Weinberg|first4=JM|title=Neurocutaneous disorders.|journal=Dermatologic clinics|date=Jul 2002|volume=20|issue=3|pages=547–60, viii|pmid=12170887|doi=10.1016/s0733-8635(02)00005-0}} 4. ^{{cite web|url=http://www.medcyclopaedia.com/library/topics/volume_vi_1/p/PHAKOMATOSIS.aspx|archive-url=https://archive.is/20120205101842/http://www.medcyclopaedia.com/library/topics/volume_vi_1/p/PHAKOMATOSIS.aspx|dead-url=yes|archive-date=2012-02-05|title=Phakomatosis|publisher=GE|work=Medcyclopaedia}} 5. ^{{cite book|author1=Myron Yanoff|author2=Jay S. Duker|title=Ophthalmology|url=https://books.google.com/books?id=u43MTFr7-m8C&pg=PA937|accessdate=27 October 2010|year=2009|publisher=Elsevier Health Sciences|isbn=978-0-323-04332-8|pages=937–}} 6. ^{{cite web| first = Ole Daniel| last = Enersen| url = http://www.whonamedit.com/doctor.cfm/792.html| title = Jan van der Hoeve| publisher = Who Named It?| accessdate = 2007-07-13}} External links{{Medical resources| DiseasesDB = 31496 | ICD10 = {{ICD10|Q|85||q|80}} | ICD9 = {{ICD9|759.5}}-{{ICD9|759.6}} | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D020752 }}
1 : Neurocutaneous conditions |
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