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Conradi–Hünermann–Happle syndrome

Rare

  • XLD Emopamil binding protein (EBP) gene mutation: cholesterol biosynthesis isomerase

  • Ichthyosiform erythroderma with feathery, adherent scale, follicular atrophoderma
  • Asymmetric proximal  limb shortening + epiphyseal stippling (chondrodysplasia punctata)
  • Ocular anomalies
  • Swirled cicatricial alopecia and coarse, lusterless hair

  • Genetic testing
  • Increased plasma 8(9)-cholestenol and 8-dehydrocholesterol

  • Multidisciplinary care