Ichthyosis hystrix

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Ichthyosis hystrix
SpecialtyDermatology

Ichthyosis hystrix is a group of rare skin disorders in the

nevi with extensive bilateral distribution.[1][2]

Types

Ichthyosis hystrix, Curth-Macklin type

Edward Lambert, an Englishman who had ichthyosis hystrix.

The symptoms of ichthyosis hystrix Curth-Macklin are similar to

Madge Thurlow Macklin (1893–1962),[5] an American medical geneticist, and is one of the first syndromes named after two women.[6]

Ichthyosis hystrix, Lambert type

Also known as ichthyosis hystrix gravior or porcupine man. This disease is characterised by spiny scales which cover the entire body except the face, genitals, palms and soles. The only known cases were in Edward Lambert (known as the porcupine man) who was exhibited in front of the Royal Society in London in 1731 and three generations of his descendants. No cases of this disease are now known though some experts believe that it may have been a type of

autosomal dominant condition.[1][7]

Hystrix-like ichthyosis with deafness syndrome

HID syndrome is also known as ichthyosis hystrix, Rheydt type after the German city of

autosomal dominant condition caused by a mutation to the GJB2 gene (the same gene affected by KID syndrome).[8][9]

Ichthyosis hystrix, Baefvertstedt type

An extremely rare disease of which only a few isolated cases are known.[1]

See also

References

  1. ^ a b c d Ichthyosis hystrix, DermIS
  2. ISBN 0-07-138076-0
    .
  3. ^ Online Mendelian Inheritance in Man (OMIM): Ichthyosis hystrix, Curth-Macklin type - 146590
  4. ^ "Ichthyosis hystrix of Curth-Macklin". Rare Disease Registry. University of Padua.
  5. doi:10.2174/1874372201105010028
    .
  6. PMID 15243529
    .
  7. ^ Online Mendelian Inheritance in Man (OMIM): Ichthyosis hystrix gravior - 146600
  8. ^ König A, Küster W, Berger R, Happle R (December 1997). "Autosomal dominant inheritance of HID syndrome (hystrix-likeichthyosis with deafness)". European Journal of Dermatology. 7 (8): 554–5.
  9. ^ Online Mendelian Inheritance in Man (OMIM): Ichthyosis, Hystrix-like, with deafness - 602540

External links

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