Phakomatosis

From WikiMD's Wellness Encyclopedia

(Redirected from Phakomatoses)


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]

Examples[edit | edit source]

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

Conditions included are:

Etymology[edit | edit source]

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]

References[edit | edit source]

  1. "Phakomatosis". Medcyclopaedia. GE. Archived from the original on 2012-02-05. {{cite web}}: Unknown parameter |dead-url= ignored (help)
  2. Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. Retrieved 2007-07-13.

External links[edit | edit source]

Classification


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



Contributors: Prab R. Tumpati, MD