Guide Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Embryology of neurocutaneous syndromes. Datenschutz Impressum.

Neurocutaneous Disorders read more. Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin.


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Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Aside from the more common forms including the different forms of neurofibromatosis, tuberous sclerosis complex, and Sturge—Weber syndrome, the great majority of neurocutaneous disorders are relatively rare but, collectively, they account for a significant proportion of the neurological disorders, especially in children.

Neurocutaneous Disorders Phakomatoses & Hamartoneoplastic Syndromes

The ectodermal origin of the skin and nervous system appeared to justify a common categorization of these disorders under the umbrella term of phacomatoses,[ 15 ] [ 16 ] [ 17 ] neurocutaneous diseases,[ 18 ] or neuroectodermal dysplasias,[ 19 ] [ 20 ] even if, recent studies revealed that the concept that the skin and nervous system are entirely derived from the ectoderm should be revised, as mesoderm and endoderm are also involved. For these reasons, the general panorama of the common and rare neurocutaneous diseases is rapidly changing and currently there is no universal agreement on a definition of these disorders: new conditions are increasingly recognized and the respective frequencies of the various types have changed with recent studies.

The clinical presentation of these conditions is extremely variable and even major features may be missing in many accepted cases. In addition, extraneurological and extracutaneous anomalies have been increasingly recognized and, in some cases, can represent the dominant clinical abnormalities.