Phakomatosis
| Phakomatoses | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | Q85 |
| ICD-9-CM | 759.5-759.6 |
| DiseasesDB | 31496 |
| Patient UK | Phakomatosis |
| MeSH | D020752 |
Phakomatoses (or neuro-oculo-cutaneous syndromes, neurocutaneous disorders) are multisystem disorders that have characteristic central nervous system, ocular, and cutaneous lesions of variable severity.[1][2] The skin and the brain have a common ectodermal origin, so there are many genetic and acquired diseases that affect both tissues.[3] However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.[4]
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.[5]
Examples of phakomatoses
Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category.[6]
Conditions included are:
- Neurofibromatosis
- Tuberous sclerosis
- Ataxia telangiectasia
- Sturge-Weber syndrome
- von Hippel-Lindau disease
- Incontinentia pigmenti
- Nevoid basal cell carcinoma syndrome
- Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome)
References
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External links
- 1147863071 at GPnotebook
- KidsHealth
- OMIM is an Online Catalog of Human Genes and Genetic Disorders
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