Autonomic thermoregulatory dysfunction in neurofibromatosis type 1

• Published in: Arquivos de neuro-psiquiatria Vol. 74; no. 10; pp. 796 - 802
• Main Authors: Madeira, Luciana G, Passos, Renata Lf, Souza, Juliana F de, Rezende, Nilton A, Rodrigues, Luiz O C
• Format: Journal Article
• Language: English
• Published: Brazil Academia Brasileira de Neurologia - ABNEURO 01.10.2016; Academia Brasileira de Neurologia (ABNEURO)
• Subjects: Adolescent; Adult; Age Factors; Analysis of Variance; body temperature regulation; Body Temperature Regulation - physiology; Case-Control Studies; Female; Humans; Male; Middle Aged; neurofibromatosis 1; Neurofibromatosis 1 - physiopathology; NEUROSCIENCES; primary dysautonomias; Primary Dysautonomias - physiopathology; PSYCHIATRY; Reference Values; Sex Factors; Skin - physiopathology; Sweat - physiology; sweating; Sweating - physiology; Time Factors; Young Adult; sudorese; disautonomia primária; regulação da temperatura corporal; primary dysautonomias; neurofibromatosis 1; sweating; body temperature regulation; neurofibromatose 1
• ISSN: 0004-282X; 1678-4227; 1678-4227; 0004-282X
• DOI: 10.1590/0004-282X20160122

Neurofibromatosis type 1 (NF1) causes neural and cutaneous disorders and reduced exercise capacity. Exercise/heat exposure increasing internal temperature must be compensated by eccrine sweat function and warmed skin vasodilation. We suspected NF1 could adversely affect eccrine sweat function and/or vascular thermoregulatory responses (VTR). The eccrine sweat function and VTR of 25 NF1 volunteers (14 males, 11 females; 16-57 years old) were compared with 23 non-NF1 controls matched by sex, age, height and weight (CG). Sweating was induced by 1) pilocarpine 1% iontophoresis (PILO); and 2) by passive heating (HEAT) via the lower third of the legs being immersed in 42°C water for one hour. Previously established eccrine sweat function and VTR protocols were used. The NF1 group showed: a) lower sweat rate than the CG group during PILO; b) a smaller diastolic pressure decrease; and c) higher tympanic temperatures than controls during HEAT (p < 0.05). Reduced sweating and vascular thermoregulatory responses suggest autonomic dysfunction in NF1 individuals.