Phakomatosis

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

Phakomatoses (or neuro-oculo-cutaneous syndromes, neurocutaneous disorders) are multisystem disorders that have characteristic central nervous system, ocular and cutaneous lesions of variable severity.[1][2] The skin and the brain have a common ectodermal origin, so there are many genetic and acquired diseases that affect both tissues.[3] However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.[4]

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.[5]

Examples of phakomatoses

Phakomatoses are inconsistently defined, and there is not a consensus about what conditions are included in this category.[6]

Conditions included are:

References

  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. ↑ Barbagallo, JS; Kolodzieh, MS; Silverberg, NB; Weinberg, JM (Jul 2002). "Neurocutaneous disorders.". Dermatologic clinics 20 (3): 547–60, viii. doi:10.1016/s0733-8635(02)00005-0. PMID 12170887.
  3. ↑ Neau, JP; Godeneche, G; Mathis, S; Guillet, G (2014). "Neurodermatology.". Handbook of clinical neurology 121: 1561–94. doi:10.1016/B978-0-7020-4088-7.00104-8. PMID 24365436.
  4. ↑ "Phakomatosis". Medcyclopaedia. GE. Archived from the original on 2012-02-05.
  5. ↑ Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. Retrieved 2007-07-13.
  6. ↑ Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. Retrieved 27 October 2010.

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