Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children

Authors

  • Lamprini Nasi Unit of Pediatric Dermatology, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • Alexios Alexopoulos Unit of Pediatric Dermatology, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • Eleftheria Kokkinou Division of Pediatric Neurology, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • Kleoniki Roka Division of Pediatric Hematology-Oncology, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • Maria Tzetis Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • Maria Tsipi Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • Talia Kakourou Unit of Pediatric Dermatology, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • Christina Kanaka-Gantenbein First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • George Chrousos First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • Antonis Kattamis Division of Pediatric Hematology-Oncology, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece
  • Roser Pons Division of Pediatric Neurology, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Agia Sophia Children's Hospital, Athens, Greece

DOI:

https://doi.org/10.2340/actadv.v103.5758

Keywords:

neurofibromatosis, café-au-lait macules, pigment intensity, melanin, genotype

Abstract

Cafe-au-lait macules are the most distinctive clinical finding in neurofibromatosis type I. The aim of this prospective study of Greek children diagnosed with neurofibromatosis type I was to describe the dermatological phenotype and to analyse the characteristics of cafe-au-lait macules and their association with genotype. Pigment intensity and melatonin content of cafe-au-lait macules were measured with a narrowband spectrophotometer. A total of 63 children aged 6 months to 16 years old were studied. Mean melanin content varied, both among patients, and within each patient (p < 0.001). Females had a higher number of cafe-au-lait macules than did males (p = 0.025), and the melanin content of cafe-au-lait macules was lower in females than males (p < 0.001). Patients with protein-truncating variants in the neurofibromatosis type I gene had higher melanin content of cafe-au-lait macules than other types of genetic variants t (55) = 2.196, p = 0.032. Plexiform neurofibromas were also detected in the majority of patients with protein- truncating variants, while juvenile xanthogranulomas were detected equally in patients with protein-truncating and non-protein-truncating variants. In conclusion, cafe-au-lait macules with high melatonin content are associated with patients carrying non-protein-truncating variants. Therefore, measurement of cafe-au-lait macule pigment intensity might provide useful information for initial assessment of patients with neurofibromatosis type I and the severity of their future phenotype.

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Additional Files

Published

2023-06-05

How to Cite

Nasi, L., Alexopoulos, A., Kokkinou, E., Roka, K. ., Tzetis, . M., Tsipi, M., Kakourou, T., Kanaka-Gantenbein, C., Chrousos, G., Kattamis, A., & Pons, R. (2023). Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children. Acta Dermato-Venereologica, 103, adv5758. https://doi.org/10.2340/actadv.v103.5758

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