Cicatrix
Seizures

Lipoid Proteinosis

Lipoid proteinosis is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the extracellular matrix 1 (ECM1) gene, resulting in hyaline-like material deposition within skin, mucosa, and other tissues. Clinical onset typically occurs in early childhood with a weak or hoarse cry from laryngeal involvement, followed by vesiculobullous or crusted cutaneous lesions that heal with pock-like or acneiform scarring. Progressive disease may produce thickened, waxy skin; oral mucosal infiltration with a cobblestone appearance; restricted tongue protrusion from frenular thickening; and moniliform blepharosis along the eyelid margins. Neurologic involvement may include seizures and neuropsychiatric manifestations, with characteristic mesial temporal lobe calcifications on neuroimaging. Airway compromise and spontaneous central nervous system hemorrhage represent severe complications. Diagnosis relies on clinicopathologic correlation, with confirmation by identification of a pathogenic ECM1 variant. Course content equips the participant to recognize hallmark cutaneous, mucosal, and neurologic features; construct a symptom-based differential diagnosis; and select appropriate testing, including skin biopsy and genetic confirmation. Learner objectives include risk stratification for life-threatening manifestations, longitudinal monitoring strategies, and individualized management planning when no randomized trial based standard of care exists. Evidence-informed options reviewed in the course include off-label systemic retinoids, short courses of systemic corticosteroids for vesiculobullous lesions, and procedural approaches for laryngeal disease and scarring, with attention to adverse effects and postoperative risks. Interprofessional collaboration among clinicians in dermatology, otolaryngology, neurology, psychiatry, dentistry, and medical genetics enhances outcomes through coordinated airway assessment, seizure management, ophthalmic and dental…

Credit & MOC Details

Credit information is provided by the course provider. We recommend confirming credit eligibility with the provider or your licensing board before starting the activity.