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

Autor: Lamprini Nasi, Alexios Alexopoulos, Eleftheria Kokkinou, Kleoniki Roka, Maria Tzetis, Maria Tsipi, Talia Kakourou, Christina Kanaka-Gantenbein, George Chrousos, Antonis Kattamis, Roser Pons
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Acta Dermato-Venereologica, Vol 103 (2023)
Druh dokumentu: article
ISSN: 0001-5555
1651-2057
DOI: 10.2340/actadv.v103.5758
Popis: 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
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