Advertisement

Conradi Hunermann Happle

  • Tor Shwayder
  • Samantha L. Schneider
  • Devika Icecreamwala
  • Marla N. Jahnke
Chapter
  • 223 Downloads

Abstract

Conradi-Hunermann-Happle (CHH) syndrome is a type of X-linked dominant ichthyosis. Other etiologies in this category include congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). CHH is also known as X-linked dominant chondrodysplasia punctata. As an X-linked dominant disorder, CHH is lethal in males except for males with XXY phenotype or in the case of mosaicism. This disorder is exceedingly rare [1, 2].

References

  1. 1.
    Takeichi T, Honda A, Okuno Y, Kojima D, Kono M, Nakamura Y, Tohyama M, Tanaka T, Aoyama Y, Akiyama M. Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hunermann- Happle syndrome with EBP mutations. Br J Dermatol. 2018;179(5):1186–8. PMID: 29851033.CrossRefGoogle Scholar
  2. 2.
    Canueto J, Giros M, Ciria S, et al. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol. 2012;166(4):830–8.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Tor Shwayder
    • 1
  • Samantha L. Schneider
    • 2
  • Devika Icecreamwala
    • 3
  • Marla N. Jahnke
    • 2
  1. 1.Pediatric DermatologyHenry Ford HospitalDetroitUSA
  2. 2.Department of DermatologyHenry Ford HospitalDetroitUSA
  3. 3.Icecreamwala DermatologyBerkeleyUSA

Personalised recommendations