RESUMO
Shabbir Syndrome or commonly known as Laryngo-onycho-cutaneous syndrome (LOCS) is an autosomal recessively inherited syndrome, caused due to mutations in the laminin alpha-3 (LAMA3) gene. This syndrome affects the epidermal layer and results in granulation formation in the eyes, larynx, and nails. One of the most dreadful complications of this syndrome can be due to granulation formation in the larynx or sub-glottis region resulting in laryngeal stenosis and death. According to the latest Online Mendelian Inheritance in Man (OMIM) classification, LOCS has been reclassified as a subtype of Junctional epidermolysis bullosa (JEB). But it is still considered a rare syndrome with limited cases reported worldwide. In this case report, we have discussed a case of a four year old, Pakistani boy, who presented with stridor, fragile skin, and granulation of nails, with no family history of LOCS.
