Medicine, Neurology, Neurosurgery, Medical Genetics, Dermatology, Psychology, Psychiatry and more
Symptoms
Dermal, ocular and CNS benign and malignant tumors. Various additional potential complications.
Complications
Numerous potential complications including cosmetic, intellectual disability, epilepsy, organ failure and more.
Usual onset
Childhood (most commonly)
Duration
Lifelong
Causes
Genetic causes
Treatment
Highly variable. Many require lifelong surveillance and various treatments depending on the particular syndrome and presentation.
Phakomatoses, also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Presentations may vary dramatically between patients with the same particular syndrome due to mosaicism, variable expressivity, and penetrance.[1]
Many phakomatoses are caused by mutations which alter functioning of the RAS–mitogen-activated protein kinase (MAPK) pathway that regulates cellular growth, differentiation, proliferation and death.[2] This results in a tendency for individuals with these mutations to develop various types of benign or malignant tumors depending on the particular mutation. The presence of these tumors may result in functional and/or cosmetic problems depending on their type and location.
^Ruggieri, Martino; Praticò, Andrea D. (2015-12-17). "Mosaic Neurocutaneous Disorders and Their Causes". Seminars in Pediatric Neurology. 22 (4): 207–233. doi:10.1016/j.spen.2015.11.001. ISSN 1558-0776. PMID 26706010.
and/or cosmetic problems depending on their type and location. The term phakomatosis originated in 1923, when the Dutch ophthalmologist van der Hoeve used...
Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous...
Phakomatosis pigmentovascularis is a rare neurocutanous condition where there is coexistence of a capillary malformation (port-wine stain) with various...
It may be associated with types of phakomatosis pigmentovascularis. Prevalence is between 0.2% and 2.8%. Phakomatosis pigmentokeratotica Skin lesion List...
"sebaceous nevus syndrome", "Solomon syndrome", and "Jadassohn's nevus phakomatosis". "Nevus" is sometimes spelled "naevus" and "sebaceous" may also be spelled...
estimated. For this reason, excision is no longer automatically recommended. Phakomatosis pigmentokeratotica List of cutaneous conditions associated with increased...
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on...
larger than the other). It can present by itself or in association with phakomatosis or hemigigantism. Additionally, hemimegalencephaly will frequently cause...
sheath tumors – are absent in Legius syndrome. Legius syndrome is a phakomatosis and a RASopathy, a developmental syndrome due to germline mutations in...
(around 100) have been reported to date. Dandy–Walker syndrome Melanoma Phakomatosis "Neurocutaneous melanosis | Genetic and Rare Diseases Information Center...
modality for TTA TTA has been associated with several disorders, such as Phakomatosis pigmentovascularis. And a rare syndrome Setleis syndrome. It is inherited...
(April 1992). "MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review". Radiology...
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