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]
Edward Lambert, an Englishman who had 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]
^"Ichthyosis hystrix of Curth-Macklin". Rare Disease Registry. University of Padua.
^Al Aboud, Khalid; Al Aboud, Daifullah (2011). "Helen Ollendorff Curth and Curth-Macklin Syndrome". The Open Dermatology Journal. 5: 28–30. doi:10.2174/1874372201105010028.
^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.
^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.
ichthyosis, hystrix, group, rare, skin, disorders, ichthyosis, family, skin, disorders, characterized, massive, hyperkeratosis, with, appearance, like, spiny, scales, this, term, also, used, refer, type, epidermal, nevi, with, extensive, bilateral, distributio. 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 hystrixSpecialtyDermatology Contents 1 Types 1 1 Ichthyosis hystrix Curth Macklin type 1 2 Ichthyosis hystrix Lambert type 1 3 Hystrix like ichthyosis with deafness syndrome 1 4 Ichthyosis hystrix Baefvertstedt type 2 See also 3 References 4 External linksTypes EditIchthyosis hystrix Curth Macklin type Edit Edward Lambert an Englishman who had 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 Edit 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 Edit HID syndrome is also known as ichthyosis hystrix Rheydt type after the German city of Rheydt near Dusseldorf 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 Edit An extremely rare disease of which only a few isolated cases are known 1 See also EditList of cutaneous conditions List of cutaneous conditions caused by mutations in keratins List of radiographic findings associated with cutaneous conditionsReferences Edit a b c d Ichthyosis hystrix DermIS Freedberg et al 2003 Fitzpatrick s Dermatology in General Medicine 6th ed McGraw Hill p 771 ISBN 0 07 138076 0 Online Mendelian Inheritance in Man OMIM Ichthyosis hystrix Curth Macklin type 146590 Ichthyosis hystrix of Curth Macklin Rare Disease Registry University of Padua Al Aboud Khalid Al Aboud Daifullah 2011 Helen Ollendorff Curth and Curth Macklin Syndrome The Open Dermatology Journal 5 28 30 doi 10 2174 1874372201105010028 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 Online Mendelian Inheritance in Man OMIM Ichthyosis hystrix gravior 146600 Konig A Kuster 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 Online Mendelian Inheritance in Man OMIM Ichthyosis Hystrix like with deafness 602540External links Edit Retrieved from https en wikipedia org w index php title Ichthyosis hystrix amp oldid 1109804633, wikipedia, wiki, book, books, library,
