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. The lesions have a variable severity. 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.
Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category.
Conditions included are:
- Ataxia telangiectasia
- Incontinentia pigmenti
- Nevoid basal cell carcinoma syndrome
- Sturge-Weber syndrome
- Tuberous sclerosis
- Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome)
- von Hippel-Lindau disease
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.
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- "Phakomatosis". Medcyclopaedia. GE. Archived from the original on 2012-02-05.
- 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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