Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers

Pediatrics. 2015 Oct;136(4):e1105-19. doi: 10.1542/peds.2015-2854.

Abstract

The brain, spinal cord, and skin are all derived from the embryonic ectoderm; this common derivation leads to a high association between central nervous system dysraphic malformations and abnormalities of the overlying skin. A myelomeningocele is an obvious open malformation, the identification of which is not usually difficult. However, the relationship between congenital spinal cord malformations and other cutaneous malformations, such as dimples, vascular anomalies (including infantile hemangiomata and other vascular malformations), congenital pigmented nevi or other hamartomata, or midline hairy patches may be less obvious but no less important. Pediatricians should be aware of these associations, recognize the cutaneous markers associated with congenital central nervous system malformations, and refer children with such markers to the appropriate specialist in a timely fashion for further evaluation and treatment.

Publication types

  • Practice Guideline

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / embryology
  • Anal Canal / abnormalities
  • Brain / abnormalities*
  • Brain / embryology
  • Child
  • Child, Preschool
  • Digestive System Abnormalities / diagnosis
  • Hemangioma / etiology
  • Humans
  • Hypertrichosis / etiology
  • Infant
  • Infant, Newborn
  • Nervous System Malformations / complications
  • Nervous System Malformations / diagnosis*
  • Nervous System Malformations / embryology
  • Nevus, Pigmented / etiology
  • Rectum / abnormalities
  • Referral and Consultation
  • Sacrococcygeal Region
  • Sacrum / abnormalities
  • Skin Diseases / etiology*
  • Skin Neoplasms / etiology
  • Spinal Cord / abnormalities*
  • Spinal Cord / embryology
  • Syringomyelia / diagnosis
  • Vascular Malformations / etiology

Supplementary concepts

  • Currarino triad