Laryngo-onycho-cutaneous (-like) syndrome due to mutated Plectin

Abstract

Laryngo-onycho-cutaneous syndrome (LOC) is a rare autosomal recessive genodermatosis that has been mainly described in the offspring of consanguineous families with origin in the Punjabi region of Pakistan and India [1]. Founder mutations affecting the LAMA3A gene on chromosome 18q11.2 have been implicated to underlie this syndrome [1,2]. Based on its molecular and clinical features, LOC was recently classified as a subtype of junctional Epidermolysis bullosa (JEB) [1].

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