Laryngo-onycho-cutaneous syndrome
Laryngo-onycho-cutaneous syndrome (LOC) is a rare genetic disorder that primarily affects the larynx, nails (onycho), and skin (cutaneous). This syndrome is characterized by severe skin abnormalities, nail malformations, and laryngeal defects. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the syndrome.
Symptoms and Signs[edit | edit source]
The most common symptoms of LOC syndrome include skin abnormalities, nail dystrophy, and laryngeal stenosis. Skin abnormalities often present as thickened, scaly skin, particularly on the palms of the hands and soles of the feet. Nail dystrophy refers to malformations or deformities of the nails, which may be absent, rudimentary, or abnormally small in individuals with LOC syndrome. Laryngeal stenosis, or narrowing of the larynx, can lead to respiratory problems and a hoarse voice.
Causes[edit | edit source]
LOC syndrome is caused by mutations in the LAMA3 gene, which provides instructions for making a protein that is essential for the normal function of the skin, nails, and larynx. The LAMA3 gene is part of a larger family of genes known as the laminin genes, which play a crucial role in the structure and function of various tissues and organs in the body.
Diagnosis[edit | edit source]
Diagnosis of LOC syndrome is typically based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the LAMA3 gene. Other diagnostic tests may include skin biopsy, laryngoscopy, and nail examination.
Treatment[edit | edit source]
There is currently no cure for LOC syndrome. Treatment is symptomatic and supportive, and may include skin care to manage the skin abnormalities, nail care for the nail dystrophy, and surgical intervention for laryngeal stenosis.
Prognosis[edit | edit source]
The prognosis for individuals with LOC syndrome varies depending on the severity of the symptoms. With appropriate management, many individuals with LOC syndrome can lead a normal life. However, severe laryngeal stenosis can be life-threatening if not properly managed.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Laryngo-onycho-cutaneous syndrome is a rare disease.
| Laryngo-onycho-cutaneous syndrome Resources | |
|---|---|
|
 |
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
