Abstract
Laryngo-onycho-cutaneous syndrome (LOC) is a rare autosomal recessive genodermatosis characterized by altered cry at birth, skin erosions, nail abnormalities, and excessive granulation tissue in the conjunctivae and larynx. Shabbir first described this condition in 1986 in several affected individuals born to consanguineous families from the Punjabi regions of India and Pakistan. In 2003, the molecular basis of LOC syndrome was elucidated with the discovery of a unique mutation affecting the N-terminus of the α3 chain of laminin-332. In 2008, LOC syndrome was reclassified as a variant of junctional epidermolysis bullosa-other (JEB-O) and termed JEB-LOC. In this chapter, we provide an overview of the clinical features, pathogenesis, and management of LOC syndrome.
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Abbreviations
- JEB:
-
Junctional epidermolysis bullosa
- JEB-O:
-
Junctional epidermolysis bullosa-other
- LOC:
-
Laryngo-onycho-cutaneous syndrome
- LOGIC:
-
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
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Lai-Cheong, J.E., Murrell, D.F., Paller, A.S. (2015). Laryngo-Onycho-Cutaneous Syndrome. In: Murrell, D. (eds) Blistering Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45698-9_38
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DOI: https://doi.org/10.1007/978-3-662-45698-9_38
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