The term Facomatosis Is used in the medical literature to define a set of neurocutaneous disorders of genetic origin (Ministry of Health, Social Services and Equality, 2016).
These are rare pathologies in the general population. At the clinical level, they are characterized by the development of an organic multisystemic affection with Skin or tumor lesions in different areas of the skin, organs or nervous system (Singht, Traboulsi and Schoenfield, 2009).
In addition, its non-specific clinical course makes it difficult to diagnose early, so its medical and psychological consequences deteriorate Significant quality of life The person affected and their relatives.
Although there are a large number of neurocutaneous diseases, the most frequent include fibromatosis type I and type II, Bourneville syndrome, Sturge-Weber syndrome and von Hippel-Lindau disease (Fernández-Mayoralas, Fernández-Jaén, Calleja Pérez and Muños-Jareño, 2007).
On the other hand, although all these are congenital pathologies, several dermatological therapeutic approaches have been designed that deal with To improve the signs and symptoms characteristic of these disorders and, therefore, the medical prognosis of those affected.
Characteristics of facomatosis
The term facomatosis comes from the expression of Greek origin Phakos Whose meaning refers to"birthmark". TO Specific level, at the present time, this term is used to designate a set of genetic pathologies that go with a neurocutaneous affectation Multisystemic (Singht, Traboulsi and Schoenfield, 2009).
Neurocutaneous pathologies are characterized mainly by the existence of a significant association between an affectation or disorder Neurological and dermatological manifestations (Puig Sanz, 2007).
Thus, the term neurocutaneous pathology is generally used to encompass different diseases that are present in the person affected by Congenital form and that, in addition, can be present throughout the life with the development of cutaneous lesions and tumors in different areas, nervous system , Cardiovascular system, renal system, cutaneous system, ophthalmic system, etc. (Salas San Juan, Brooks Rodríguez, Acosta .
In this way, the term facomatosis was introduced in 1917 by Brouwer and subsequently by van der Hoeve in 1923, however, descriptions (Rojas Silva, Sánchez Salori and Capeans Torné, 2016) are currently only referring to some pathologies included in this group. Describe more than 40.
At the clinical level, facomatosis is described as a disease that presents with cutaneous alterations and benign / malignant malformations in different Systems: neurological, ocular, cutaneous and visceral (Singht, Traboulsi and Schoenfield, 2009).
As for the affected areas, several authors point out that they are those of ectodermal origin the most harmed, ie the skin and the nervous system, Although they may also affect other systems or devices, such as the ocular (Fernández-Mayoralas et al., 2007).
Are neurocutaneous pathologies very common?
Syndromes and pathologies of neurocutaneous origin are rare diseases in the general population, although there are no specific data at the General of all these (Salas San Juan, Brooks Rodríguez, Acosta Elizastigui, 2013).
Thus, the epidemiology of these disorders varies according to the type of disease, namely, neurofibromatosis is one of the most common, with a Relative prevalence of one case per 300,000 births (Salas San Juan, Brooks Rodríguez, Acosta Elizastigui, 2013).
Characteristic signs and symptoms
As we have pointed out previously, neurocutaneous diseases are characterized by the development of cutaneous lesions. Specifically, Facomatosis is distinguished from many others by the presence of hamartomas.
The Hamartomas Constitute a type of malformation or benign tumor that can grow in different organs such as the brain, heart, Eyes, skin or lungs (Sáinz Hernández and Vallverdú Torón, 2016).
However, facomatosis can be associated with a large number of medical conditions that are going to vary, fundamentally, depending on the disease or Pathology that the affected person has.
Most frequent types of phomomatosis and features
At present, a large number of neurocutaneous disorders have been identified at clinical and genetic levels; however, there are some with a Prevalence in the general population: neurofibromatosis type I and type II, Bourneville disease, von Hippel-Lindau disease Sturge-Weber syndrome (Fernández-Mayoralas et al., 2007).
1. Neurofibromatosis
There are different clinical forms of neurofibromatosis. However, currently the most frequent are neurofibromatosis type I, also called Von Reclinghausen disease and neurofibromatosis type II, followed by spinal shwannomatosis (Singht, Traboulsi and Schoenfield, 2009).
At the etiological level, all these medical manifestations of the neurofibromatosis present a genetic origin and they follow with the formation of tumors in areas Nervous, especially the central and peripheral nervous system (Ministry of Health, Social Services and Equality, 2016).
Tumor formations, usually non-cancerous or benign, usually grow and develop in almost any part of the nervous system, such as brain, spinal cord Or peripheral nerves (Mayo Clinic, 2015).
Thus, algae from medical complications secondary to neurofibromatosis include abnormalities in growth, development of episodes Seizures, the appearance of Brain tumors , Bone pathologies, deafness and / or blindness, or the development of significant learning problems, Among others (Ministry of Health, Social Services and Equality, 2016).
In addition, this pathology is present from the moment of birth. However, the significant manifestation of its clinical condition may be delayed Until the end of early childhood, beginning of adolescence or adulthood (Heredia García, 2012).
On the other hand, the diagnosis of this type of pathologies, usually includes, besides the physical and neurological examination, different tests of neuroimaging and Genetic analysis (Mayo Clinic, 2015).
In addition, at present there is no cure for neurofibromatosis, however, there are specialized therapeutic approaches in the Dermatological involvement, may include both pharmacological and surgical treatments to curb or eliminate tumor formations (Mayo Clinic, 2015).
to) Neurofibromatosis type I
Neurofibromatosis type I (NF1), also known as von Recklinghausen disease, is manifested primarily through the presence of Pale brown spots, commonly referred to as"café au lait", ephelides (freckles) and neurofibromas (nerve damage in Cells of Schwann and Neurites) (Léauté-Labrèze, 2006).
It has an autosomal dominant genetic origin, specifically it is due to a mutation in chromosome 17, in the location 17q11.2. Thus, the gene involved in
The development of neurofibromatosis type I, plays a prominent role in the modulation of cell growth and differentiation and, in addition, may
Function as a tumor suppressor (Puig Sanz, 2007).
As for the epidemiology of this pathology, it presents an approximate prevalence of one case per 2,500,3000 births (Fernández-Mayoralas et al. 2007).
The diagnosis of neurofibromatosis type I is usually made based on the consensus clinical criteria of the National Institute of Health (1987), without However, it requires continued follow-up to avoid secondary medical complications (Puig Sanz, 2007).
Typically, tumor growths are treated with drugs, to prevent their exponential development or through surgical excision (National Institute of Health, 2014).
B) Neurofibromatosis type II
Neurofibromatosis type II (NF2), manifests mainly through the development of schwannomas, ie, tumor formations derived from Schwann cells Which cover nervous extensions (Singh, Traboulsi and Schoenfield, 2009).
The Schwannomas Or neuriomas usually affect the auditory, optic nerve and, to a lesser extent, cutaneous areas (Rojas Silva, Sánchez Salori and Capeans Torné, 2016)
Neurofibromatosis type II has an autosomal dominant genetic origin, specifically due to the presence of a mutation on chromosome 22, in The 22q11.22 location.
The gene involved in the development of this pathology is responsible for coding a protein component with a prominent role In tumor suppression, so that their deficient activity produces an abnormal increase in cell proliferation (Fernández-Mayoralas et al., 2007).
As for the epidemiology of this pathology, it is less frequent than type 1, presenting an approximate prevalence of one case per 50,000 Births (Heredia García, 2012).
The diagnosis of type II neurofibromatosis is similar to that of the previous type and is usually performed based on the National Clinical consensus criteria Institute of Health (1987). However, it usually includes complementary lavage tests, such as neuroimaging (Puig Sanz, 2007).
Typically, tumor growths are treated with drugs, however, in cases where possible surgical excision is used (National Instituted of Health 2014).
2. Bourneville disease
Bourneville disease is one of the terms used to refer to tuberous sclerosis, a disorder of genetic origin that
Characterized by the presence of hamartomas (Sáinz Herández and Vallverú Torón, 2016).
At the clinical level it can result in a multisystemic affection characterized by cutaneous involvement (facial angiomas, ungual fibromas, plaques Fibroids, hypochromatic spots, etc.), renal involvement (renal angiomyolipomas or renal cysts), cardiac involvement (cardiac rhabdomyomas), Neurological involvement (cortical tufts, subependymal glial nodules, atrocitomas, convulsive episodes, intellectual disability, anomalies Behavioral and motor), among others.
Like the diseases described above, the origin of tuberous sclerosis is genetic. Specifically it is due to the presence of Mutations in the TSC1 and TSC2 genes (National Institute of Neurological Disorders and Stroke, 2016).
On the other hand, the diagnosis of tuberous sclerosis is based on the clinical criteria proposed at a medical conference in 1998 (Gerogescou Et al., 2015). However, the genetic study is also considered relevant for confirmation.
Regarding the treatment of tuberous sclerosis, although there is no cure, different pharmacological and surgical approaches are often used Mainly for the control of tumor growths and secondary medical complications such as neurological manifestations.
3. Von Hippel-Lindau disease
Von Hippel-Lindau disease, also known as retino-cerebellar angiomatosis, is manifested primarily through the presence and Development of vascular malformations, cysts and / or tumors, generally benign (Heredia García, 2012).
It has an autosomal dominant genetic origin, specifically it is due to a mutation in the chromosome 3, in the location 3p-25-26. In addition, it presents a Estimated incidence of one case per 40,000 births (Heredia García, 2012).
Specifically, von Hippel-Lindau disease mainly affects the central nervous system (CNS) and retina , Through the formation of Hemangiomas .
Hemangiomas are vascular malformations that are characterized by the presence of clusters of dilated blood capillaries. They often appear in Brain and spinal areas, although they are also frequent in the retinas or in the skin.
The diagnosis of this pathology, in addition to the physical and neurological examination, requires a detailed ophthalmological study, together with the relevant analysis Of different neuroimaging tests, to confirm the presence of nerve lesions (Rojas Silva, Sánchez Salori and Capeans Torné, 2016)
On the other hand, regarding the treatment of Von Hippel-Lindau's disease, the basic intervention is surgery for the elimination of malformations Vascular diseases. However, it requires continued follow-up to avoid secondary complications (Orphanet, 2012).
In addition, it has a reduced life expectancy, around 50 years of age, mainly due to the development of renal cell carcinomas (Neoplastic cancer cell formation in the renal tubules) (Orphanet, 2012).
Four. Sturge-Weber Syndrome
Sturge-Weber syndrome, also known as encephalon-trigeminal angiomatosis, is manifested primarily through the presence of hemangiomas (Rojas Silva, Sánchez Salori and Capeans Torné, 2016)
A hemangioma is a type of neoplasm or tumor formation that is characterized by the presence of an abnormally high number of blood vessels in the Skin or other internal organs.
Specifically, at the clinical level, Sturge-Weber syndrome is characterized by the development of facial hemangiomas, intracranial hemangiomas, and Hemangiomas, connective, episceral and Glaucomas (Rojas Silva, Sánchez Salori and Capeans Torné, 2016)
It has a genetic origin, specifically it is due to a mutation in the chromosome9, in the location 9q21, in the GNQ gene. This genetic component has a Role in the control of growth factors, vasoactive peptides and neurotransmitters (Orhphanet, 2014).
The diagnosis of Sturge-Weber syndrome is based on clinical suspicion and the performance of different laboratory tests, such as Computed tomography or magnetic resonance imaging (Orhphanet, 2014).
On the other hand, in terms of treatment, laser therapy is able to reduce the progression of this pathology and, in addition, eliminate in many cases Complete hemangiomas (Orhphanet, 2014).
References
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- Heredia García, C. (2012). Facomatosis. Actual state. Balearic Medicine , 31-44.
- Léauté-Labràze, C. (2006). Pediatric Dermatology. EMC , 1-13.
- Mayo Clinic. (2015). Neurofibromatosis . Obtained from Mayo Clinic.
- MSSI. (2016). GENETIC NEUROCUTANEOUS SYNDROMES (FACOMATOSIS) . Obtained from Ministry of Health, Social Services and Equality.
- NIH. (2015). Sturge-Weber syndrome . Obtained from MedlinePlus.
- Orphanet. (2014). Sturge-Weber Syndrome . Obtained from Orphanet.
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- Rojas Silva, M., Sánchez Salorio, M., & Capeans Torné, C. (2016). Facomatosis . Obtained from Spanish Society of Ophthalmology.
- Salas San Juan, O., Brooks Rodríguez, M., & Acosta Elizastigui, T. (2013). Neurocutaneous Syndromes identifiable by the Integral General Practitioner By physical examination. Rev Cub de Med Gen. Int , 352-335.
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- Image source .