Hystrix-like ichthyosis with deafness
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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.
Descrição
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.
Padrões de herança
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
Patient information leaflet
Somatização e transtornos funcionais
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Hipoparatireoidismo
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Dor de ouvido
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Colesteatoma
Colesteatoma is the name given to a collection of skin cells that form a pearly-white greasy-looking lump deep in the ear, usually at the top of the area behind the eardrum. What is a cholesteatoma. A colesteatoma is a non-cancerous abnormal growth de skin-like tissue in the middle ear. Cholesteatomas are rare. It can be present at birth.
Patient information leaflet
Testes de audição
There are various different ways to test hearing, depending on the age of the person involved and the type of hearing loss. The medical term for hearing tests is audiometry. Always follow the instruction... How do hearing tests work. There are various tipos de deafness tests that can be carried out to check how well you are hearing. They vary.
Patient information leaflet
Doença de Ménière
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Leitura adicional e referências
- 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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