Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy

Acta Neuropathol. 1997 Aug;94(2):103-8. doi: 10.1007/s004010050680.

Abstract

We studied the immunohistochemical expression of laminin subunits alpha 2, alpha 1, beta 1 in muscle and skin biopsy samples from three patients with congenital muscular dystrophy (CMD), and from ten control patients investigated for various neuromuscular disorders. Merosin alpha 2 chain was not detectable in the basement membrane of muscle fibers, or in the nerve endings, cutaneous nerves, and corium in the skin of the CMD patients, whereas it was clearly expressed in the skin biopsy samples from control patients, especially in the nerve endings of the arrector pili muscles. Laminin alpha 1 chain was expressed in the corium, in the muscle fiber membranes of arrector pili muscles and in cutaneous nerve fibers, perineurium and blood vessels in controls and in CMD patients. Laminin beta 1 chain was faintly expressed in the corium, and a diffuse labeling was detected on arrector pili muscle with enhanced expression at nerve endings, intracutaneous nerves and capillaries, with similar findings in all biopsy specimens. For merosin-negative CMD patients, skin biopsy may provide a diagnostic alternative to muscle biopsy since merosin deficiency can be demonstrated in the skin neural structures, and in particular in the nerve endings of the arrector pili smooth muscles.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Child
  • Child, Preschool
  • Humans
  • Immunohistochemistry
  • Infant
  • Infant, Newborn
  • Laminin / biosynthesis
  • Laminin / deficiency
  • Laminin / metabolism*
  • Muscles / chemistry
  • Muscles / innervation
  • Muscles / metabolism
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology*
  • Skin / chemistry
  • Skin / metabolism
  • Skin / pathology

Substances

  • Laminin