Neurocutaneous syndromes, more commonly referred to as phakomatosis, can affect children and adults with the same voracity.
This neurocutaneous disease of sorts includes a collective group of central nervous system disorders which are related to lesions in the eye and skin, with the possibility of also affecting the visceral organs.
What Is Neurocutaneous Syndrome?
The neurocutaneous syndrome is manifested and related to the ectodermal point of origin. It then affects these organs.
Some of the main syndromes associated with this include:
- Tuberous sclerosis complex
- Sturge-Weber syndrome
- von Hippel-Lindau disease
The definition is quite flexible and can be stretched to also include the following:
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6 Types Of Neurocutaneous Syndromes:
Phakomatoses cannot be defined in a consistent manner and therefore, there is no general consensus about the kinds of conditions included in the various categories.
However, some of the more popular conditions include:
This condition refers to a number of conditions that are inherited and are quite distinct both genetically and clinically.
A few facts:
- High risk of tumour formation.
- One gene is required for the development of the disorder.
- It is hereditary and parents can pass it on to their children.
- The condition affects both males and females.
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2. Ataxia telangiectasia:
It refers to a rare, neurodegenerative disease that can be inherited, thereby causing major deformity. The condition affects various parts of your child’s body, like:
- Certain parts of the brain including the cerebellum, causing movement difficulties as a result.
- Weakens the immune system, thereby increasing the risk of infection.
- Prevents the repair of broken DNA, making your child susceptible to cancer.
3. Sturge–Weber syndrome:
This condition is also referred to as encephalotrigeminal angiomatosis and is characterized as a rare, congenital skin and brain disorder. Here are some of its characteristics:
- Phakomatoses is most often than not associated with port-wine stains of the face
- Mental retardation
- Ipsilateral leptomeningealangioma
- One side of your child’s brain could be affected as a result.
[ Read: Periorbital Cellulitis ]
4. Bonnet–Dechaume–Blanc syndrome:
This condition is also referred to as “Wyburn–Mason syndrome” which is a rare condition. It is characterized by the following:
- Vascular malformation which stretches from the craniofacial to the brain.
- It is also known as phakomatosis.
5. Von Hippel–Lindau:
This disease is quite rare and is a genetic condition that exposes individuals to malignant tumours. Some of the most common tumours that your child can develop include:
- Central nervous system.
- Retina lhemangioblastomas.
- Clear cell renal carcinomas.
- Pancreatic neuroendocrine tumors.
- Cysts in the pancreas.
- Endolymphatic sac tumors.
- Epididymal papillary cystadenomas.
6. Nevoid Basal Cell Carcinoma Syndrome:
This condition is also referred to by the following names:
- Basal cell nevus syndrome.
- Multiple basal cell carcinoma syndromes.
- Gorlin syndrome.
- Gorlin–Goltz syndrome.
This condition can be inherited by your child from you. It also affects various parts of the body, including:
- Nervous system
- Endocrine system
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If your child happens to be diagnosed with this condition, he or she will be prone to develop a common but not a life-threatening type of non-melanoma skin cancer.
While one of these conditions may be applicable to your child, they can be treated if diagnosed at the right time by a doctor.
We hope that the information provided in this article will help you effectively with neurocutaneous disorder, especially if it affects your child. We would like for you to keep in touch and give us a monthly update on how your child is progressing.
Mommies, as this is not a very common condition, we encourage you to share your experiences in case you have seen this first hand.
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