Phakomatosis
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:
- Ataxia telangiectasia
- Incontinentia pigmenti
- Neurofibromatosis
- Nevoid basal cell carcinoma syndrome
- Sturge-Weber syndrome
- Tuberous sclerosis
- Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome)
- von Hippel-Lindau disease
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]
- ↑
- ↑
- ↑
- ↑ "Phakomatosis". Medcyclopaedia. GE. Archived from the original on 2012-02-05.
{{cite web}}: Unknown parameter|dead-url=ignored (help) - ↑
- ↑ 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
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