Laryngo-onycho-cutaneous (LOC) syndrome; Long Term Outcomes of Two Patients with laryngeal Involvement

LOC syndrome has been recently represented as a subtype of junctional epidermolysis bullosa (JEB) with autosomal recessive genetic aberration. LOC syndrome presents with distinguished skin and mucous membranes excessive granulation tissue formation that may lead to delayed wound healing, laryngeal airway obstruction and visual impairment which will result in blindness. So far, most cases are confined to Punjabi ancestry and are shown to result from a founder mutation within the LAMA3 gene, especially involving a unique nucleotide insertion mutation in DNA39, that is restricted to the LAMA3A (designated DNA one of LAMA3A) [1].