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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]


Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category.[5]

Conditions included are:


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.[6]


  1. ^ 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.
  2. ^ 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.
  3. ^ 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.
  4. ^ "Phakomatosis". Medcyclopaedia. GE. Archived from the original on 2012-02-05.
  5. ^ Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. Retrieved 27 October 2010.
  6. ^ Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. Retrieved 2007-07-13.

External links[edit]

  • KidsHealth
  • OMIM is an Online Catalog of Human Genes and Genetic Disorders