Correspondence

BackgroundzzLipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associ-ated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). Case ReportzzThis was a clinical and molecular study of a new case of LP with a severe phe-notype. A 35-year-old female born to nonconsanguineous parents developed dermatological and extracutaneous symptoms in her 9th month of life. The neurological abnormalities of the disease began to appear at the age of 19 years. Computed tomography revealed cranial calcifi-cations. ConclusionszzThe diagnosis of LP was confirmed by histopathological findings and direct se-quencing of ECM1. A new homozygous nonsense mutation was identified in exon 7 of ECM1, c.1076G>A (p.Trp359*). This mutation was not detected in 106 chromosomes of healthy individ-uals with a similar demographic origin. Microsatellite markers around ECM1 were used to con-struct the haplotype in both the parents and the patient. Reports on genotype-phenotype correla-tions in LP point to a milder phenotype in carriers of missense mutations in the Ecm1a isoform, whereas mutations in the Ecm1b isoform are thought to be associated with more severe pheno