Laryngo-onycho-cutaneous syndrome
Zuletzt aktualisiert 18. Aug 2020
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Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury.
Beschreibung
Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury.
One of the first symptoms in infants with LOC syndrome is a hoarse cry due to ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess granulation tissue can also block the airways, leading to life-threatening breathing problems; as a result many affected individuals do not survive past childhood.
In LOC syndrome, granulation tissue also grows in the eyes, specifically the conjunctiva, which are the moist tissues that line the eyelids and the white part of the eyes. Affected individuals often have impairment or complete loss of vision due to the tissue overgrowth.
Another common feature of LOC syndrome is missing patches of skin (cutaneous erosions). The erosions heal slowly and may become infected. People with LOC syndrome can also have malformed nails and small, abnormal teeth. The hard, white material that forms the protective outer layer of each tooth (enamel) is thin, which contributes to frequent cavities.
LOC syndrome is typically considered a subtype of another skin condition called junctional epidermolysis bullosa, which is characterised by fragile skin that blisters easily. While individuals with junctional epidermolysis bullosa can have some of the features of LOC syndrome, they do not usually have overgrowth of granulation tissue in the conjunctiva.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
JEB-LOC
Laryngoonychocutaneous syndrome
LOC syndrome
LOCS
LOGIC syndrome
Shabbir syndrome
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Weiterführende Lektüre und Referenzen
- Laryngo-onycho-cutaneous syndrome; MedlinePlus, National Library of Medicine.
- Barzegar M, Mozafari N, Kariminejad A, Asadikani Z, Ozoemena L, McGrath JA. A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome. Br J Dermatol. 2013 Dec;169(6):1353-6. doi: 10.1111/bjd.12522.
- Cohn HI, Murrell DF. Laryngo-onycho-cutaneous syndrome. Dermatol Clin. 2010 Jan;28(1):89-92. doi: 10.1016/j.det.2009.10.010.
- McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet. 2003 Sep 15;12(18):2395-409. doi: 10.1093/hmg/ddg234. Epub 2003 Jul 15.
- Phillips RJ, Atherton DJ, Gibbs ML, Strobel S, Lake BD. Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect. Arch Dis Child. 1994 Apr;70(4):319-26. doi: 10.1136/adc.70.4.319.
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18. Aug 2020 | Neueste Version
1 Sept 2014 | Ursprünglich veröffentlicht
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