Phakomatosis

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Phakomatoses
Classification and external resources
ICD-10 Q85
ICD-9 759.5-759.6
DiseasesDB 31496
MeSH D020752

Phakomatoses (or neuro-oculo-cutaneous syndromes) are multisystem disorders that have characteristic central nervous system, ocular and cutaneous lesions of variable severity.[1]

These tissues have a common ectodermal origin. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.[2]

The 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.[3]

Examples of phakomatoses[edit]

Phakomatoses are inconsistently defined, and there is not a consensus about what conditions are included in this category.[4]

Conditions included are:

References[edit]

  1. ^ Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–. ISBN 978-0-632-06429-8. Retrieved 27 October 2010. 
  2. ^ "Phakomatosis". Medcyclopaedia. GE. Archived from the original on 2012-02-05. 
  3. ^ Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. Retrieved 2007-07-13. 
  4. ^ Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. Retrieved 27 October 2010. 
  • Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–. ISBN 978-0-632-06429-8. [1]. Retrieved 27 October 2010.
  • vi_1/p/PHAKOMATOSIS article at GE's Medcyclopaedia
  • Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. [2]. Retrieved 2007-07-13.
  • Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. [3]. Retrieved 27 October 2010.
  • Sandra Bellezza, MD: Neurological Manifestations of Phakomatos

External links[edit]