Disease relevance of Neurocutaneous Syndromes

• Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1 [1].
• The commonest neurocutaneous syndromes manifesting epilepsy are tuberous sclerosis and the Sturge-Weber syndrome [2].
• Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by development of unusual tumor-like growths [3].
• Incontinentia pigmenti (IP) is a rare neurocutaneous disorder caused by mutations in the NEMO (NF-kappaB essential modulator) gene [4].
• The localized form of nevus depigmentosus must be distinguished from an ash leaf spot, the earliest cutaneous manifestation of tuberous sclerosis, whereas the systematized form may be confused with hypomelanosis of Ito, another neurocutaneous disorder [5].

High impact information on Neurocutaneous Syndromes

• Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibomatosis, is a common heritable neurocutaneous disorder [6].
• We studied four patients with a focal epilepsy and bilateral occipital corticosubcortical calcifications without any sign of phakomatosis [7].
• Neurocutaneous disorder and mental functioning. The Blake March Lecture for 1974, delivered before the Royal College of Psychiatrists, 4 February 1974 [8].
• Tuberous sclerosis (TSC), an autosomal dominant neurocutaneous disorder with mutations in either of two genes, TSC1 or TSC2, requires comprehensive screening of both genes for molecular diagnosis [9].
• Neurofibromatosis type 1 (NF1) is a common neurocutaneous disorder, inherited as an autosomal dominant trait and caused by mutations in the NF1 gene [10].

Anatomical context of Neurocutaneous Syndromes

• As a member of the phakomatoses, TSC is characterized by the appearance of benign tumors, most notably in the central nervous system, kidney, heart, lung, and skin [11].
• Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia: a new neurocutaneous syndrome [12].

Gene context of Neurocutaneous Syndromes

• Phakomatosis pigmentovascularis type IIa with generalized vitiligo [13].
• Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis [14].
• Ectodermal dysplasia and brain cystic changes: confirmation of a novel neurocutaneous syndrome [15].
• Interestingly, Carney complex is also a phakomatosis where multiple endocrine neoplasias are prominent and thyroid cancer might be a rare component [16].
• We propose that both Costello syndrome and other clinical entities that have potential mesodermal or ectodermal deficiencies (eg, Chiari I malformation and phakomatoses, respectively) could have common dysgeneses [17].

References