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Phakomatoses, also known as dermatological and nervous diseases, or neuroectomesodermal dysplasias, are congenital developmental disorders mainly affecting the skin and the nervous system. Abnormalities often also affect other organs, it is worth finding out who is at risk of developing the disease and how phacomatosis manifests itself.

Phakomatosis(English phakomatosis, Greekphakomameaning mark, stain) are a group of over 70 diseases, or rather developmental disorders various tissues, the most common are skin changes and neurological symptoms indicative of changes in the nervous system.

These abnormalities are related to the fact that both systems have a common origin - the germ layer called the ectoderm. In addition, the damage may affect the vascular system, less often internal organs, and the tendency to neoplastic growth is also increased.

Phakomatosis: causes and types

The cause of phakomatosis are most often mutations of single genes, characteristic for each disease, their result is a development disorder already in the 3-4th week of fetal life.

The very name "phacomatosis" comes from the first term for nodules on the retina that occur in the course of one of these diseases - tuberous sclerosis.

The incidence of phacomatosis varies greatly, it is estimated that the most common occur every 2000 births, the rarest - every few million.

The risk of these disorders does not depend on the parents' lifestyle or the course of pregnancy, the mutations that cause them appear most often by chance. Due to the genetic cause of these diseases, there is no effective therapy and their course is usually chronic and progressive.

The most common phakomatoses are:

  • neurofibromatosis type 1
  • neurofibromatosis type 2
  • tuberous sclerosis
  • Sturge-Weber syndrome
  • von Hippel-Lindau syndrome
  • ataxia-telangiectasia
  • Rendu-Osler-Weber disease

The rarer ones are:

  • dye incontinence
  • Gorlin-Goltz team
  • Schimmelpenning-Feuerstein-Mims syndrome
  • Klippel-Trénaunay syndrome

Phakomatosis is a rare but dangerous genetic disease that is associated with the frequent occurrence of cancer and changes in the nervous system.

Much less dangerous, although various skin lesions are often noticed first, their nature can make a proper diagnosis for the doctor.

Despite the achievements of medicine and genetics, there is no effective therapy for treating this group of diseases, and patients with such diagnoses require frequent checks by many specialists, including a neurologist, ophthalmologist, dermatologist, nephrologist, physiotherapist or psychologist.

The management of such patients is based on the treatment of lesions, especially neoplasms, and if they cause discomfort, also skin lesions.

Neurofibromatosis type 1

The most common phacomatosis, also known as von Recklinghausen's disease, is autosomal dominant inheritance, so it often occurs in many generations of one family, although it is often the result of a new mutation.

Some or all of them may be present in neurofibromatosis:

  • skin changes
  • neurofibromas
  • epilepsy
  • bone defects
  • nervous system tumors

Skin symptoms are very characteristic, present in all patients, they are called cafe au lait spots.

These birthmarks are light brown changes, often very extensive and appearing all over the body, with age they tend to grow, darken and appear new.

Other skin lesions are freckled, fine spots that appear during puberty.

Neurofibromas, on the other hand, are red or bluish raised bumps that appear in large numbers on the abdomen and back, but can also happen inside the body.

Their variation are plexus neurofibromas, which in turn occur as a result of thickening of large nerves, which is why they are most often found around the eye sockets or on the neck.

The growth of such neurofibromas can be dangerous if they grow into the spinal canal or if it grows within the limbs causing bone deformation.

The most common bone defects observed in von Recklinghausen's disease include lateral curvature of the spine (scoliosis) and its excessive anterior curvature (kyphosis), and there are also defects of the skull bones leading to the large head and bone defects of the lower limbs.

Nodules on the retina, a characteristic symptom of phacomatosis, in neurofibromatosis type 1, are called Lisch nodules, are brown in color and occur in almost all patients.

Von Recklinghausen disease is also associated with a greater tendency to develop neoplasms of the central nervous system, these are mainly optic nerve gliomas, which cancause impairment of vision or the functioning of the pituitary gland.

The diagnosis of type 1 neurofibromatosis is based on the appropriate number and size of café au lait spots, optic nerve glioma, the presence of neurofibromas or plexus neurofibromas, Lisch nodules and the presence of patients in the family.

There is no effective cure, only symptomatic treatment with early treatment of nervous system neoplasms - radio- or chemotherapy and skin lesions.

Therefore, frequent he alth assessment is necessary: ​​blood pressure, neurological control, eye examination, and due to the risk of CNS neoplasms, computed tomography or MRI scans every 2-3 years.

The most serious disease, which is life threatening in patients with neurofibromatosis type 1, is the more frequent occurrence of malignant neoplasms, including: tumors of peripheral nerves, sarcomas and leukemias, therefore regular medical check-ups are necessary.

Neurofibromatosis type 2

It is about 50 times less common than type 1 neurofibromatosis, but like it is autosomal dominant inheritance, some symptoms are also similar, they include:

  • plamy café au lait
  • skin neurofibromas
  • central nervous system tumors

The latter are much more common than in von Recklinghausen disease, and the most characteristic are auditory neuromas, which cause hearing loss, facial muscle weakness, headaches, and imbalances.

Symptoms that occur only in this neurofibromatosis are clouding of the lens, i.e. cataract, as well as damage to peripheral nerves.

Regular diagnosis of patients requires hearing assessment (audiogram), brain imaging, neurological and dermatological examinations.

There is no effective method of cure, however, monitoring and early treatment of neoplastic changes is important.

Tuberous sclerosis

Tuberous sclerosis is one of the most common phakomatosis, manifested by skin changes and the appearance of tumors in the nervous system, but also in the eyes or internal organs, fortunately they are not malignant, it is believed that these are developmental abnormalities .

Skin lesions characteristic of this disease are the so-called colorless birthmarks - white spots on the skin of the body and limbs where there is no pigment.

In addition, there are also characteristic fibromas, i.e. brown protrusions on the forehead and fingers, as well as Pringle's nodules, i.e. red, small noduleslocated on the nose and cheeks.

In addition to skin lesions and tumors, tuberous sclerosis also has neurological diseases - epilepsy and mental retardation.

Diagnosing the disease is not easy because in young children the disease is usually mildly symptomatic and diagnostic criteria include more than 20 different symptoms.

Tumors of internal organs are fibroids (in the heart) or hemangiomas and cysts (in the kidneys and liver), they are not malignant, but they can damage the functioning of the organs - they disrupt blood flow or cause kidney failure.

The only method of therapy is symptomatic treatment, i.e. tumor removal and pharmacological treatment of neurological symptoms. As in other phacomatosis, the course of the disease should be monitored and imaging tests performed periodically.

Sturge-Weber syndrome

This is a very rare phacomatosis. Characteristic for this syndrome is a flat angioma on the face, also known as a red wine stain, which is a sharply delineated red, raised stain.

This syndrome also includes meningeal hemangiomas and epileptic seizures, sometimes accompanied by glaucoma, paresis and epilepsy. Imaging tests show calcium deposits in the brain.

Treatment is to counteract symptoms, i.e. antiepileptic drugs, glaucoma treatment and surgical removal of skin lesions.

von Hippel-Lindau syndrome

This syndrome is also a rare phakomatosis. In its course, the greatest concern is the frequent occurrence of neoplasms, unfortunately, in many places at the same time.

Kidneys are an organ especially exposed to them, in which both harmless kidney cysts and kidney cancers are more likely to develop.

Cancer affects the nervous system and eyes slightly less often, especially the cerebellum, the spinal cord and the retina (where hemangiomas form here), the symptoms of these tumors are headache, dizziness, balance disorders, nausea and vomiting, and sensory disturbances.

Pheochromocytoma is a tumor of the adrenal gland, which is also more frequent in von Hippel-Lindau syndrome than in he althy people, and may be responsible for the development of hypertension, as well as bouts of headache, abdominal pain and palpitations.The predisposition to cancer also affects many other organs, but they are often benign, asymptomatic cysts or adenomas, the organs in which they develop: the pancreas, the inner ear, and the epididymis in men.

The management of people with von Hippel-Linadu syndrome is frequent prophylaxis, i.e. control of organs in whichcancer may develop, so regular visits to an ophthalmologist, urine laboratory tests, and imaging tests of the abdomen and head.

Ataxia-telangiectasia

In contrast to the previously described phakomatosis is inherited autosomal recessively, so the risk of passing the disease to children by sick people is much lower.

The symptoms of this disease are impaired motor coordination (called ataxia), the presence of dilated small blood vessels visible on the skin, often called spider veins.

In addition, people with this syndrome more often suffer from blood cancers and have immunodeficiencies. A characteristic feature of this disease is the high sensitivity of the cells of patients to ionizing radiation, even very small doses cause their death.

Rendu-Osler-Weber disease

The symptoms and course of this disease are mainly associated with damage to the walls of blood vessels. In sick people, therefore, telangiectasias and malformations, i.e. improperly dilated connections of arteries with veins, are delicate, which results in bleeding from the nose, skin, lungs and particularly dangerous bleeding into the central nervous system.

Dye incontinence syndrome

This syndrome is a very rare disorder and is one of the few phakomatoses whose inheritance is related to gender.

The skin changes are phased, with blisters, warts, discoloration, and finally discoloration and hair loss.

The lesions also affect the eyes and the brain, causing blindness and intellectual disability.

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Category:

Genetic diseases