Chapter 36 - Genetics of neural crest and neurocutaneous syndromes
Introduction
With the exception of tuberous sclerosis and neurofibromatosis 1 and 2, the genetic defects in most of the neurocutaneous syndromes remain unknown or merely speculative. The pathogenesis of these syndromes is mediated by the neural crest tissue, hence to approach an understanding of the mechanism and, ultimately, the etiology, one must first be cognizant of the considerable data on the genetic regulation of neural crest formation, migration, and terminal differentiation, including its inductive role on peripheral non-neural tissues that involves craniofacial development (Sarnat and Flores-Sarnat, 2005, Flores-Sarnat and Sarnat, 2008).
Section snippets
Neural crest
The neural crest is a population of transitory embryonic cells of neuroectodermal derivation defined by its peripheral migratory behavior outside the neural tube and ability to differentiate into numerous cellular types. It is not yet sufficiently developed to constitute an anatomical structure. Neural crest cells first appear in primordial form at the lateral margins of the neural placode at the time of, or very shortly after, gastrulation. They are not yet committed to neural crest lineage
Craniofacial development
Neural crest forms nearly all of the face and most of the cranium except for the posterior third of the parietal bones, occipital bones, and the endochondral bone of the base of the skull, which are derived from paraxial mesoderm. Neural crest is the origin of the cartilage and membranous bone of the face and calvarium, connective tissues, the globe of the eye except for the retina and choroid, cranial nerve sheaths, and blood vessels including the stria vascularis that covers the hair cells of
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2022, Clinics in DermatologyCitation Excerpt :One prominent subtype of epidermal nevus syndrome is linear nevus sebaceous syndrome (LNSS), which is characterized by the triad of sebaceous nevi (almost all of which are linear in morphology), seizures, and intellectual disability.39,40 LNSS has previously been termed Schimmelpenning syndrome and Jadassohn nevus phakomatosis, and sebaceous nevi are sometimes referred to as nevi sebaceous of Jadassohn.39-41 The major cutaneous manifestations of LNSS are sebaceous nevi, which are cutaneous hamartomas that present either at birth or within the first year of life as yellow linear plaques, typically along lines of Blaschko on the face, scalp, or neck.42-45
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2018, Trends in Molecular MedicineCitation Excerpt :PROS, however, exhibits apparent skewing in the pattern of overgrowth among tissues, with mesoderm-derived tissues (e.g., adipose tissue, vasculature, muscle, bone) and neuroectoderm-derived tissues (e.g., brain, cephalic connective tissue) prominently affected macroscopically (Figure 5). There is much less macroscopic involvement of endoderm-derived structures (e.g., pancreas, liver), and little evidence of epithelial overgrowth beyond epidermal nevi and seborrheic keratoses, both of neuroectodermal origin [23]. The extremely low burden of PIK3CA hotspot mutations in blood, in contrast to non-hotspot variants, which are not infrequently detected in many tissues, including blood, is also of note [15,17,18,22].
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