BACKGROUND: Neurofibromatosis type 1 is fully penetrant by the age of 8 years, and 3 criteria of diagnosis are dermatological: café-au-lait spots (CLS), intertriginous freckling and neurofibromas (NF). OBJECTIVES: The aim of our study was to determine the evolving pattern of cutaneous manifestations during adulthood. METHODS: Phenotypic data of patients seen in our center between March 2003 and December 2009 were studied. Patients were classified in 10-year groups. Following clinical characteristics, the number of CLS and the number of cutaneous and subcutaneous NF were compared according to age. RESULTS: 728 subjects, 404 females and 324 males (mean age of 32.4 years, range 6-80 years) were studied. Four hundred eighty-nine patients were over 20 years old (67%). The number of CLS (small or large) was significantly decreased with age while the number of cutaneous and subcutaneous NF was strongly increased (p < 0.001). CONCLUSIONS: The decrease in CLS with age has not been previously reported while an increase in the number of NF is well described during puberty and pregnancy and with age.
BACKGROUND:Neurofibromatosis type 1 is fully penetrant by the age of 8 years, and 3 criteria of diagnosis are dermatological: café-au-lait spots (CLS), intertriginous freckling and neurofibromas (NF). OBJECTIVES: The aim of our study was to determine the evolving pattern of cutaneous manifestations during adulthood. METHODS: Phenotypic data of patients seen in our center between March 2003 and December 2009 were studied. Patients were classified in 10-year groups. Following clinical characteristics, the number of CLS and the number of cutaneous and subcutaneous NF were compared according to age. RESULTS: 728 subjects, 404 females and 324 males (mean age of 32.4 years, range 6-80 years) were studied. Four hundred eighty-nine patients were over 20 years old (67%). The number of CLS (small or large) was significantly decreased with age while the number of cutaneous and subcutaneous NF was strongly increased (p < 0.001). CONCLUSIONS: The decrease in CLS with age has not been previously reported while an increase in the number of NF is well described during puberty and pregnancy and with age.
Authors: Karin S G Cunha; Rafaela E Rozza-de-Menezes; Raquel M Andrade; Amy Theos; Ronir R Luiz; Bruce Korf; Mauro Geller Journal: Orphanet J Rare Dis Date: 2014-12-05 Impact factor: 4.123
Authors: Douglas R Stewart; Bruce R Korf; Katherine L Nathanson; David A Stevenson; Kaleb Yohay Journal: Genet Med Date: 2018-04-26 Impact factor: 8.822
Authors: Ashley Cannon; Dominique C Pichard; Pamela L Wolters; Sarah Adsit; Gregg Erickson; Andrés J Lessing; Peng Li; Whitney Narmore; Claas Röhl; Tena Rosser; Brigitte C Widemann; Jaishri O Blakeley; Scott R Plotkin Journal: Neurology Date: 2021-07-06 Impact factor: 11.800