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Peroxisomal Enzyme Deficiency in X-linked Dominant Conradi—Hünermann Syndrome

  • P. T. Clayton
  • D. Chester Kalter
  • D. J. Atherton
  • G. T. N. Besley
  • D. M. Broadhead

Abstract

The X-linked dominant Conradi—Hünermann syndrome (CHS-XD, McKusick 30295) is characterized by ichthyosiform erythroderma at birth giving way to whorled areas of hyperkeratosis, streaky follicular atrophoderma, cicatricial alopecia and coarse lustreless hair. The facies typically shows frontal bossing, a flattened nasal bridge and malar hypoplasia. Cataracts are common. Skeletal abnormalities include the transient punctate epiphyseal calcifications, asymmetric limb shortening and short stature. According to Happle (1981), CHS-XD can be readily distinguished from an autosomal dominant form of the Conradi—Hünermann syndrome (CHS-AD, McKusick 11865) because the latter does not produce whorled/streaky skin lesions or cataracts. Differentiation between CHS-XD and autosomal recessive rhizomelic chondrodysplasia punctata (RCP, McKusick 21510) presents no serious problem: patients with RCP have severe, symmetrical proximal limb shortening, marked psychomotor retardation, mild ichthyotic skin changes and they rarely survive beyond 2 years of age.

Keywords

Bile Acid Phytanic Acid Nasal Bridge Autosomal Dominant Form Zellweger Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • P. T. Clayton
    • 1
  • D. Chester Kalter
    • 2
  • D. J. Atherton
    • 1
  • G. T. N. Besley
    • 3
  • D. M. Broadhead
    • 3
  1. 1.Institute of Child Health and Hospital for Sick ChildrenLondonUK
  2. 2.St John’s Hospital for Diseases of the SkinLondonUK
  3. 3.Royal Hospital for Sick ChildrenEdinburghUK

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