Paediatrics and Genetics

A 3-year-old Pakistani boy has had persistent facial and auricular erosions, periungual inflammation, granulation tissue, and progressive nail dystrophy affecting fingers and toes. He later developed recurrent laryngeal obstruction with persistent hoarseness requiring repeated microlaryngoscopy and serial dilatations, alongside ocular irritation and a granulomatous lateral canthal lesion. Examination showed crusted facial erosions, scarring nail dystrophy, periungual granulation tissue, and thickened dystrophic toenails. Apart from microcytic iron deficiency anaemia, he was otherwise systemically well. Molecular testing identified a homozygous pathogenic LAMA3 variant, consistent with junctional epidermolysis bullosa.