Multiple Facial Atrophic Scars in Childhood

A 5-year-old girl with multiple facial atrophic scars was diagnosed with lipoid proteinosis, a rare genetic disorder caused by mutations in the ECM1 gene. She exhibited symptoms such as a hoarse voice and sparse hair, but lacked other typical features like keratotic plaques. Genetic testing revealed a novel mutation c.7delA and a recurrent maternal mutation c.760C>T, leading to a mild phenotype. Lipoid proteinosis can affect multiple systems and requires a multidisciplinary approach for management. While various treatments have shown variable efficacy, the patient was advised to avoid skin trauma to minimize scarring. At a 1-year follow-up, new lesions were reduced, but existing scars persisted.