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Neurocristopathy is a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.[1] The term was coined by Robert P. Bolande in 1974.[2]

Accepted examples are piebaldism, Waardenburg syndrome, Hirschsprung disease, Ondine's curse (congenital central hypoventilation syndrome), pheochromocytoma, paraganglioma, Merkel cell carcinoma, multiple endocrine neoplasia, neurofibromatosis type I, CHARGE syndrome, familial dysautonomia, DiGeorge syndrome, Axenfeld-Rieger syndrome, Goldenhar syndrome (a.k.a. hemifacial microsomia), craniofrontonasal syndrome, congenital melanocytic nevus, melanoma, and certain congenital heart defects of the outflow tract, in particular.

Multiple sclerosis has also been suggested as being neurocristopathic in origin.[3]

The usefulness of the definition resides in its ability to refer to a potentially common etiological factor for certain neoplasms and/or congenital malformation associations that are otherwise difficult to group with other means of nosology.


  1. ^ Etchevers, Heather C.; Amiel, Jeanne; Lyonnet, Stanislas (2006). "Molecular Bases of Human Neurocristopathies". Neural Crest Induction and Differentiation, Volume 589. Advances in Experimental Medicine and Biology. pp. 213–34. ISBN 978-0-387-35136-0. PMID 17076285. doi:10.1007/978-0-387-46954-6_14. 
  2. ^ Bolande, Robert P. (1974). "The neurocristopathies: A unifying concept of disease arising in neural crest maldevelopment". Human Pathology. 5 (4): 409–29. doi:10.1016/S0046-8177(74)80021-3. 
  3. ^ Behan, Peter O.; Chaudhuri, Abhijit (2010). "The sad plight of multiple sclerosis research (low on fact, high on fiction): Critical data to support it being a neurocristopathy". Inflammopharmacology. 18 (6): 265–90. PMID 20862553. doi:10.1007/s10787-010-0054-4.