BACKGROUND: Lipoid 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 associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). CASE REPORT: This was a clinical and molecular study of a new case of LP with a severe phenotype. 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 calcifications. CONCLUSIONS: The diagnosis of LP was confirmed by histopathological findings and direct sequencing 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 individuals with a similar demographic origin. Microsatellite markers around ECM1 were used to construct the haplotype in both the parents and the patient. Reports on genotype-phenotype correlations 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 phenotypes. The present findings in a Spanish patient carrying a truncating mutation in exon 7 revealed complete dermatological and neurological manifestations.
Adult ; Cicatrix ; Codon, Nonsense ; Diagnosis ; Exons ; Extracellular Matrix* ; Female ; Genetic Association Studies ; Haplotypes ; Humans ; Microsatellite Repeats ; Mucous Membrane ; Mutation, Missense ; Neurologic Manifestations ; Parents ; Phenotype ; Skin ; Voice

Objectives: This study aimed to investigate sleep patterns and chronotypes in Spanish women diagnosed with fibromyalgia syndrome (FMS). Methods: A descriptive, cross-sectional observational study following the Strengthening the Reporting of Observational Studies in Epidemiology guidelines was conducted from March 1, 2024, to June 10, 2024, at the Fibromyalgia and Chronic Fatigue Syndrome Association of Tenerife (San Cristóbal de La Laguna, Spain). Results: A total of 73 women, with a mean age of 56.15±6.47 years, diagnosed with FMS were enrolled. Bedtime habits and wake-up times showed significant variability, reflecting individual differences in sleep chronotype preferences among the participants. The Pittsburgh Sleep Quality Index revealed a mean score of 11.62±0.92, indicating substantial challenges in sleep quality among participants with FMS. Sleep efficiency was low, averaging 14.86%±0.34%, and there was a significant discrepancy in sleep duration between workdays and free days, with an average difference of 2.0±0.5 h. The participants reported compensatory sleep through an average of two naps per day, each lasting 40 min. Conclusions Participants with FMS experienced poor sleep quality, characterized by variability in sleep patterns between workdays and free days, along with significant social jet lag. Low sleep efficiency suggests a prevalent sleep debt, which the participants attempted to mitigate through frequent and extended napping.

Objectives: This study aimed to investigate sleep patterns and chronotypes in Spanish women diagnosed with fibromyalgia syndrome (FMS). Methods: A descriptive, cross-sectional observational study following the Strengthening the Reporting of Observational Studies in Epidemiology guidelines was conducted from March 1, 2024, to June 10, 2024, at the Fibromyalgia and Chronic Fatigue Syndrome Association of Tenerife (San Cristóbal de La Laguna, Spain). Results: A total of 73 women, with a mean age of 56.15±6.47 years, diagnosed with FMS were enrolled. Bedtime habits and wake-up times showed significant variability, reflecting individual differences in sleep chronotype preferences among the participants. The Pittsburgh Sleep Quality Index revealed a mean score of 11.62±0.92, indicating substantial challenges in sleep quality among participants with FMS. Sleep efficiency was low, averaging 14.86%±0.34%, and there was a significant discrepancy in sleep duration between workdays and free days, with an average difference of 2.0±0.5 h. The participants reported compensatory sleep through an average of two naps per day, each lasting 40 min. Conclusions Participants with FMS experienced poor sleep quality, characterized by variability in sleep patterns between workdays and free days, along with significant social jet lag. Low sleep efficiency suggests a prevalent sleep debt, which the participants attempted to mitigate through frequent and extended napping.

Objectives: This study aimed to investigate sleep patterns and chronotypes in Spanish women diagnosed with fibromyalgia syndrome (FMS). Methods: A descriptive, cross-sectional observational study following the Strengthening the Reporting of Observational Studies in Epidemiology guidelines was conducted from March 1, 2024, to June 10, 2024, at the Fibromyalgia and Chronic Fatigue Syndrome Association of Tenerife (San Cristóbal de La Laguna, Spain). Results: A total of 73 women, with a mean age of 56.15±6.47 years, diagnosed with FMS were enrolled. Bedtime habits and wake-up times showed significant variability, reflecting individual differences in sleep chronotype preferences among the participants. The Pittsburgh Sleep Quality Index revealed a mean score of 11.62±0.92, indicating substantial challenges in sleep quality among participants with FMS. Sleep efficiency was low, averaging 14.86%±0.34%, and there was a significant discrepancy in sleep duration between workdays and free days, with an average difference of 2.0±0.5 h. The participants reported compensatory sleep through an average of two naps per day, each lasting 40 min. Conclusions Participants with FMS experienced poor sleep quality, characterized by variability in sleep patterns between workdays and free days, along with significant social jet lag. Low sleep efficiency suggests a prevalent sleep debt, which the participants attempted to mitigate through frequent and extended napping.