Ichthyosis hystrix

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Ichthyosis hystrix
Ichthyosis hystrix-Thick scales on face and teeth abnormalitie

Ichthyosis hystrix is a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales.[1] This term is also used to refer to a type of epidermal nevi with extensive bilateral distribution.[1][2]


Ichthyosis hystrix, Curth-Macklin type

Edward Lambert, an Englishman who suffered from ichthyosis hystrix.

The symptoms of ichthyosis hystrix Curth-Macklin are similar to epidermolytic hyperkeratosis (NPS-2 type) but there is no blistering and the hyperkeratosis is verrucous or spine-like. The hyperkeratosis is brown-grey in colour and is most obvious on the arms and legs. It is an autosomal dominant condition and can be caused by errors to the KRT1 gene.[3][4] It is named after Helen Ollendorff Curth (1899-1982), a German-Jewish dermatologist, and 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 epidermolytic hyperkeratosis. From the history of the Lambert family the disease appears to have been an 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 Rheydt near Düsseldorf where it was first discovered. Symptoms are bilateral hearing loss and spiky hyperkeratotic masses which cover the whole body though the palms and soles are less badly affected. It can be differentiated from KID syndrome which also has symptoms of deafness and ichthyosis by the different distribution of hyperkeratosis. It is an 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]


The diagnosis of Ichthyosis hystrix of Curth-Macklin (type) entails skin biopsies and clinical exam of the affected individual[10]


Management of this condition is for the life of the individual and concentrates on oral and systemic keratolytics .[10]

See also


  1. 1.0 1.1 1.2 1.3 Ichthyosis hystrix Archived 2020-07-27 at the Wayback Machine, DermIS
  2. Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 771. 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. Archived from the original on 2020-07-27. Retrieved 2021-05-07.
  5. Al Aboud, Khalid; Al Aboud, Daifullah (2011). "Helen Ollendorff Curth and Curth-Macklin Syndrome" (PDF). The Open Dermatology Journal. 5: 28–30. doi:10.2174/1874372201105010028. Archived from the original (PDF) on 2014-05-04. Retrieved 2013-05-05.
  6. Burgdorf WH, Scholz A (July 2004). "Helen Ollendorff Curth and William Curth: from Breslau and Berlin to Bar Harbor". J. Am. Acad. Dermatol. 51 (1): 84–9. doi:10.1016/j.jaad.2003.12.035. 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. Archived from the original on 2020-07-28. Retrieved 2021-05-07.
  9. Online Mendelian Inheritance in Man (OMIM): Ichthyosis, Hystrix-like, with deafness - 602540
  10. 10.0 10.1 RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Ichthyosis hystrix of Curth Macklin". www.orpha.net. Archived from the original on 25 October 2020. Retrieved 1 August 2021.

External links