BACKGROUNDTuberous Sclerosis represents a genetic disorder of hamartoma formation in many organs, particularly the skin, brain, eye, kidney, and heart. It is now recognized that about half the families are linked to 9q34 (TSC1) and the other half to 16p13 (TSC2).

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BACKGROUNDLipoid proteinosis is a rare autosomal recessive disorder that presents early in infancy with hoarseness of voice followed by pox like and acneiform scars with infiltration and thickening of skin and certain mucous membranes. Mutations in the gene encoding extracellular matrix protein 1 (ECM1) on chromosome 1q21 is the cause in lipoid proteinosis. On histopathology, cutaneous deposition of amorphous eosinophilic material and thickened capillary dermis was noted. On immunofluorescence, anti-type 4 collagen antibodies were seen. No definitive treatment for disease was present. KEYWORDSLipoid Proteinosis, Extracellular Matrix Protein 1, Anti-Type 4 Collagen Antibody.HOW TO CITE THIS ARTICLE: Petkar S, Galani V. A rare case of lipoid proteinosis.