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.
Beschreibung
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
Patient information leaflet
Somatisierung und funktionelle Störungen
If we know someone with diabetes, we might be more aware of feelings of nausea or light-headedness when we haven't eaten. Sometimes there are no obvious reasons for the changes in the way our brain is reacting. Functional neurological disorder Previously known as conversion disorder, functional neurological disorder (or FND) is a condition where a.
Patient information leaflet
Hypoparathyreoidismus
Hypoparathyroidism occurs when too little parathyroid hormone is released by Arztpraxis parathyroid glands. It can also occur if the parathyroid hormone that is released does not work properly. Congenital hypoparathyroidism can also be associated with ot... One example is Hypoparathyreose das occurs with deafness und problems with kidney development..
Patient information leaflet
Ohrenschmerzen
This often clears up on its own without any treatment. However, if it. So, problems with the ear may cause other symptoms such as loss of hearing, dizziness or a ringing in the ear. This leaflet provides an overview of some of the more häufige Probleme related to the ears. It will direct you towards leaflets with more detailed information on the.
Patient information leaflet
Cholesteatom
Cholesteatom 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 Cholesteatom is a non-cancerous abnormal growth von skin-like tissue in the middle ear. Cholesteatomas are rare. It can be present at birth.
Patient information leaflet
Hörtests
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 Typen von deafness tests that can be carried out to check how well you are hearing. They vary.
Patient information leaflet
Menière-Krankheit
Ménière's disease typically causes attacks of Schwindel with a spinning sensation (vertigo), hearing Gewichtsverlust and noises in the ear (tinnitus). The attacks can vary in severity and in how often they occur. If you are a driver, you must stop driving if Ménière's disease is diagnosed. What is Ménière's disease. Menière-Krankheit is a condition of the.
Weiterführende Lektüre und Referenzen
- 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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18. Aug 2020 | Neueste Version
1 Nov 2012 | Ursprünglich veröffentlicht
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