Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder

Schimmelpenning Syndrome, also known as Schimmelpenning-Feuerstein-Mims syndrome, is a neuro-oculo-cutaneous disorder characterized by the presence of nevus sebaceous and potential cerebral, ocular, and skeletal defects. A case study of a 1.5-month-old girl with patchy hair loss and yellow-to-black lesions on her face and scalp, following a Blaschko-linear pattern, highlights the syndrome's manifestations. Despite an uneventful birth, the child later exhibited delayed developmental milestones and profound hearing loss. While there is no curative treatment, management involves an interdisciplinary approach and cosmetic treatments for skin lesions, such as emollients, retinoids, and surgical options. Ocular lesions may require procedures like excision or keratoplasty. The study emphasizes the importance of careful evaluation and tailored treatment strategies for affected systems.