Hystrix-like ichthyosis with deafness
עודכן לאחרונה 18 Aug 2020
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Hystrix-like ichthyosis with deafness (HID) is a disorder characterised by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.
תיאור
Hystrix-like ichthyosis with deafness (HID) is a disorder characterised by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.
Newborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
HID syndrome
Ichthyosis, hystrix-like, with deafness
Related patient information and medicines
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כולסטאטומה
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בדיקות שמיעה
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מחלת מנייר
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קריאה נוספת והפניות
- Hystrix-like ichthyosis with deafness; MedlinePlus, National Library of Medicine.
- Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276.
- Todt I, Hennies HC, Kuster W, Smolle J, Rademacher G, Mutze S, Basta D, Eisenschenk A, Ernst A. Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. Audiol Neurootol. 2006;11(4):242-8. doi: 10.1159/000093110. Epub 2006 May 4.
- van Geel M, van Steensel MA, Kuster W, Hennies HC, Happle R, Steijlen PM, Konig A. HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol. 2002 Jun;146(6):938-42. doi: 10.1046/j.1365-2133.2002.04893.x.
- van Steensel MA. Gap junction diseases of the skin. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):12-9. doi: 10.1002/ajmg.c.30030.
- Xu J, Nicholson BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13.
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