Phakomatosis

Phakomatoses
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Synonyms	Phakomatosis
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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.<ref name="neuroderm 2014">,

 Neurodermatology., 
 Handbook of Clinical Neurology, 
 
 Vol. 121,
 pp. 1561–94,
 DOI: 10.1016/B978-0-7020-4088-7.00104-8,
 PMID: 24365436,</ref> The lesions have a variable severity.<ref name="Rook(FRCP.)2004">, 
  
 Rook's textbook of dermatology. online version, 
  
 Wiley-Blackwell, 
 2004, 
  
  
 ISBN 978-0-632-06429-8, 
  
  
  
 Pages: 5–,</ref><ref>, 
 Neurocutaneous disorders., 
 Dermatologic Clinics, 
 
 Vol. 20(Issue: 3),
 pp. 547–60, viii,
 DOI: 10.1016/s0733-8635(02)00005-0,
 PMID: 12170887,</ref> 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.<ref>

Phakomatosis(link). {{{website}}}. GE.

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Examples

Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category.<ref name="YanoffDuker2009">,

 Ophthalmology. online version, 
  
 Elsevier Health Sciences, 
 2009, 
  
  
 ISBN 978-0-323-04332-8, 
  
  
  
 Pages: 937–,</ref>

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

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.<ref> Enersen, Ole Daniel. Jan van der Hoeve(link). {{{website}}}. Who Named It?.

</ref>

External links

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

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