Boy with a ring 7 chromosome: a case report with special reference to dermatological findings

Acta Paediatr. 1996 Oct;85(10):1256-60. doi: 10.1111/j.1651-2227.1996.tb18243.x.

Abstract

A ring chromosome 7 was found in an 8-year-old boy investigated on account of short stature and facial dysmorphism. He had a fair skin, almost white hair, cafe-au lait spots and many black atypical pigmented naevi. Electron microscopy of his skin revealed structural changes in melanocytes and keratinocytes, suggesting disturbed cell growth and differentiation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cafe-au-Lait Spots / genetics
  • Child
  • Chromosomes, Human, Pair 7*
  • Developmental Disabilities / genetics
  • Facial Asymmetry / genetics
  • Growth Disorders / genetics
  • Humans
  • Karyotyping
  • Male
  • Melanins
  • Melanocytes / metabolism
  • Melanocytes / pathology
  • Nevus, Pigmented / genetics
  • Phenotype
  • Ring Chromosomes*
  • Skin / metabolism
  • Skin / pathology

Substances

  • Melanins