Hystrix-like ichthyosis–deafness syndrome
(Redirected from HID syndrome)
Hystrix-like ichthyosis–deafness syndrome (HID syndrome) is a rare genetic disorder characterized by the presence of ichthyosis and sensorineural hearing loss. This condition is part of a group of disorders known as keratinization disorders, which affect the skin's ability to shed dead cells, leading to thick, scaly skin.
Presentation[edit | edit source]
Individuals with HID syndrome typically present with ichthyosis, which manifests as thick, spiky scales on the skin, resembling the quills of a porcupine. This distinctive skin condition is often apparent at birth or develops in early childhood. In addition to skin abnormalities, affected individuals experience sensorineural hearing loss, which can range from mild to profound. The hearing loss is usually congenital, meaning it is present from birth.
Genetics[edit | edit source]
HID syndrome is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene associated with HID syndrome is GJB2, which encodes the protein connexin 26. Mutations in this gene disrupt the function of connexin 26, leading to the symptoms observed in HID syndrome.
Diagnosis[edit | edit source]
Diagnosis of HID syndrome is based on clinical evaluation, family history, and genetic testing. The presence of characteristic skin lesions and hearing loss, along with a positive genetic test for mutations in the GJB2 gene, confirms the diagnosis.
Management[edit | edit source]
There is no cure for HID syndrome, and treatment focuses on managing symptoms. Emollients and keratolytics can help to soften and remove the thickened skin. Regular hearing assessments and the use of hearing aids or other assistive devices can help manage hearing loss. Genetic counseling is recommended for affected individuals and their families.
Prognosis[edit | edit source]
The prognosis for individuals with HID syndrome varies. While the skin condition and hearing loss are lifelong, they do not typically affect life expectancy. However, the severity of symptoms can impact the quality of life.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD