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Related Concept Videos

Neurulation01:30

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Enzyme-linked Receptors01:00

Enzyme-linked Receptors

Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Disorders of the Nervous Tissue01:28

Disorders of the Nervous Tissue

Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Nervous Tissue: Neuron Types01:19

Nervous Tissue: Neuron Types

Neurons, the fundamental units of the nervous system, can be classified based on both their structural and functional characteristics.
Structurally, neurons are categorized into three main types: multipolar, bipolar, and unipolar (or pseudounipolar). Multipolar neurons, which are the most common type in the brain and spinal cord, as well as all motor neurons, possess multiple dendrites and a single axon.
Bipolar neurons, on the other hand, have one primary dendrite and one axon. They are...

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An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
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An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

Neurofibromatosis type 1.

Kevin P Boyd1, Bruce R Korf, Amy Theos

  • 1Departments of Dermatology and Genetics, University of Alabama at Birmingham, 1530 3rd Ave S., Birmingham, AL 35294-0009, USA.

Journal of the American Academy of Dermatology
|June 23, 2009
PubMed
Summary
This summary is machine-generated.

Neurofibromatosis type 1 (NF1) is a genetic disorder impacting multiple systems. Dermatologists play a key role in diagnosing NF1

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Area of Science:

  • Genetics and Dermatology
  • Multisystemic Genetic Disorders

Background:

  • Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting 1 in 3500 individuals.
  • Recent advances have improved understanding of NF1 pathophysiology.
  • No approved medical therapies exist, but clinical trials are underway for manifestations like plexiform neurofibromas, learning disabilities, and optic pathway gliomas.

Purpose of the Study:

  • To outline the dermatologist's role in diagnosing and managing Neurofibromatosis type 1.
  • To describe the diverse cutaneous and extracutaneous findings associated with NF1.
  • To discuss genetic testing indications and limitations for NF1.

Main Methods:

  • Review of current literature on Neurofibromatosis type 1.
  • Analysis of diagnostic criteria and management strategies.
  • Description of common and uncommon clinical presentations relevant to dermatology.

Main Results:

  • Dermatologists are crucial for identifying characteristic NF1 skin findings.
  • NF1 presents with a wide spectrum of cutaneous manifestations.
  • Genetic testing aids in diagnostic confirmation and prenatal diagnosis.

Conclusions:

  • Dermatological evaluation is essential for early and accurate NF1 diagnosis.
  • Understanding the full range of NF1 manifestations guides comprehensive patient management.
  • Ongoing research aims to develop effective treatments for NF1.