phakomatosis
Sign in to saveAlso known as Phakomatoses, Neuro-oculo-cutaneous syndromes, Neurocutaneous disorders, Neurocutaneous diseases, Neurocutaneous syndromes
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.
Key facts
- Medical condition.name
- Phakomatoses
- Medical condition.synonyms
- Neurocutaneous syndromes
- Medical condition.field
- Medicine, Neurology, Neurosurgery, Medical Genetics, Dermatology, Psychology, Psychiatry and more
- Medical condition.symptoms
- Dermal, ocular and CNS benign and malignant tumors. Various additional potential complications.
- Medical condition.complications
- Numerous potential complications including cosmetic, intellectual disability, epilepsy, organ failure and more.
- Medical condition.onset
- Childhood (most commonly)
- Medical condition.duration
- Lifelong
- Medical condition.causes
- Genetic causes
- Medical condition.treatment
- Highly variable. Many require lifelong surveillance and various treatments depending on the particular syndrome and presentation.
via Wikipedia infobox
Health references
- ICD-10
- Q85.00 — Neurofibromatosis, unspecified
Clinical Trials
455 registered- PHASE2COMPLETEDRapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAMChildren's Hospital Medical Center, Cincinnati · NCT00457808
- PHASE3TERMINATEDA Long-term Study of NPC-12G Gel in Neurofibromatosis Type INobelpharma · NCT04461886
- RECRUITINGGlioma Developmental and HyperActive Ras Tumor (DHART) BoardMemorial Sloan Kettering Cancer Center · NCT05489783
- RECRUITINGSurveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST)National Cancer Institute (NCI) · NCT06222203
- RECRUITINGNeurofibromatosis (NF) Registry PortalThe Children's Tumor Foundation · NCT01885767
- PHASE1/PHASE2COMPLETEDRAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAMChildren's Hospital Medical Center, Cincinnati · NCT00457964
~22 min read
Encyclopedic overview
12 sectionsContents
- History
- Types
- Neurofibromatosis Type I (von Recklinghausen disease)
- Neurofibromatosis Type II
- Tuberous sclerosis (Bourneville syndrome)
- Sturge–Weber Syndrome
- Von Hippel–Lindau syndrome (hemangiomatosis)
- Genetics
- Diagnosis
- Treatment
- References
- External links
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.
Many phakomatoses are caused by mutations which alter functioning of the RAS–mitogen-activated protein kinase (MAPK) pathway and the PI3K/AKT/mTOR pathway that regulates cellular growth, differentiation, proliferation and death. 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.
Excerpted from Wikipedia’s “phakomatosis” article, available under the CC BY-SA 4.0 licence.