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- W2153142912 abstract "Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. In some neurocutaneous syndromes the abnormal mosaic patterning involve mainly the skin and the nervous system configuring a (true) mosaic neurocutaneous disorder; or an ordinary trait of a neurocutaneous disorder is sometimes superimposed by a pronounced linear or otherwise segmental involvement; or, lastly, a neurocutaneous disorder can occur solely in a mosaic pattern. Recently, the molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades (eg, RAS, MAPK, mTOR, PI3K/AKT and GNAQ pathways), which are often responsible of the mosaic distribution of cutaneous and extra-cutaneous features. In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; microcephaly/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker’s nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis." @default.
- W2153142912 created "2016-06-24" @default.
- W2153142912 creator A5007702657 @default.
- W2153142912 creator A5063514160 @default.
- W2153142912 date "2015-12-01" @default.
- W2153142912 modified "2023-10-14" @default.
- W2153142912 title "Mosaic Neurocutaneous Disorders and Their Causes" @default.
- W2153142912 cites W1484776715 @default.
- W2153142912 cites W1507786207 @default.
- W2153142912 cites W1530429153 @default.
- W2153142912 cites W1538404912 @default.
- W2153142912 cites W1545500462 @default.
- W2153142912 cites W1548116088 @default.
- W2153142912 cites W1564039458 @default.
- W2153142912 cites W1569056202 @default.
- W2153142912 cites W1583505746 @default.
- W2153142912 cites W1583897924 @default.
- W2153142912 cites W1629078953 @default.
- W2153142912 cites W1710846561 @default.
- W2153142912 cites W1735040307 @default.
- W2153142912 cites W1757000446 @default.
- W2153142912 cites W1770897146 @default.
- W2153142912 cites W1849625350 @default.
- W2153142912 cites W1870978486 @default.
- W2153142912 cites W188785337 @default.
- W2153142912 cites W1892732884 @default.
- W2153142912 cites W1893139431 @default.
- W2153142912 cites W1920168804 @default.
- W2153142912 cites W1926696312 @default.
- W2153142912 cites W1930056247 @default.
- W2153142912 cites W1965509305 @default.
- W2153142912 cites W1965877734 @default.
- W2153142912 cites W1966037853 @default.
- W2153142912 cites W1966364714 @default.
- W2153142912 cites W1966727415 @default.
- W2153142912 cites W1967606066 @default.
- W2153142912 cites W1970358680 @default.
- W2153142912 cites W1971844675 @default.
- W2153142912 cites W1971898253 @default.
- W2153142912 cites W1972541135 @default.
- W2153142912 cites W1972639642 @default.
- W2153142912 cites W1976016371 @default.
- W2153142912 cites W1977298789 @default.
- W2153142912 cites W1977448552 @default.
- W2153142912 cites W1978704260 @default.
- W2153142912 cites W1979415582 @default.
- W2153142912 cites W1979769894 @default.
- W2153142912 cites W1982938350 @default.
- W2153142912 cites W1983400189 @default.
- W2153142912 cites W1983986657 @default.
- W2153142912 cites W1985848626 @default.
- W2153142912 cites W1987311809 @default.
- W2153142912 cites W1987621742 @default.
- W2153142912 cites W1987684716 @default.
- W2153142912 cites W1988223053 @default.
- W2153142912 cites W1988748026 @default.
- W2153142912 cites W1990954164 @default.
- W2153142912 cites W1992014946 @default.
- W2153142912 cites W1992615066 @default.
- W2153142912 cites W1992989573 @default.
- W2153142912 cites W1993748567 @default.
- W2153142912 cites W1996022860 @default.
- W2153142912 cites W1996455455 @default.
- W2153142912 cites W1996540181 @default.
- W2153142912 cites W1998446134 @default.
- W2153142912 cites W1999469679 @default.
- W2153142912 cites W1999719530 @default.
- W2153142912 cites W1999762980 @default.
- W2153142912 cites W2001170015 @default.
- W2153142912 cites W2001607828 @default.
- W2153142912 cites W2003125798 @default.
- W2153142912 cites W2003812843 @default.
- W2153142912 cites W2005081610 @default.
- W2153142912 cites W2007959353 @default.
- W2153142912 cites W2009770942 @default.
- W2153142912 cites W2011167341 @default.
- W2153142912 cites W2011549454 @default.
- W2153142912 cites W2012110118 @default.
- W2153142912 cites W2012424183 @default.
- W2153142912 cites W2013589811 @default.
- W2153142912 cites W2014159406 @default.
- W2153142912 cites W2016910640 @default.
- W2153142912 cites W2017760626 @default.
- W2153142912 cites W2018269934 @default.
- W2153142912 cites W2019071012 @default.
- W2153142912 cites W2020464075 @default.
- W2153142912 cites W2021504464 @default.
- W2153142912 cites W2022864089 @default.
- W2153142912 cites W2024314872 @default.
- W2153142912 cites W2025813387 @default.
- W2153142912 cites W2026012659 @default.
- W2153142912 cites W2026039752 @default.
- W2153142912 cites W2027311608 @default.
- W2153142912 cites W2028065098 @default.
- W2153142912 cites W2028730574 @default.
- W2153142912 cites W2028739562 @default.
- W2153142912 cites W2028782677 @default.
- W2153142912 cites W2030325753 @default.