Ross syndrome: a rare or a misknown disorder of thermoregulation? A skin innervation study on 12 subjects.
Ross syndrome is described as a rare disorder of sweating associated with areflexia and tonic pupil. Since Ross's first description in 1958, approximately 40 cases have been described. We assessed the involvement of cutaneous innervation in 12 subjects with Ross syndrome using quantitative sensory testing, sweating assessment and immunohistochemical study of anhidrotic and hyperhidrotic skin. This evaluation was repeated over time in 4 out of 12 subjects. In addition, we enrolled four subjects with Holmes-Adie syndrome (areflexia and tonic pupil) to investigate similarities between the two conditions. We found in Ross patients a complex and progressive involvement of cutaneous sensory and autonomic innervation underlying the impairment of heat production and heat dissipation through both loss of sweating and loss of cutaneous blood flow regulation. In Holmes-Adie subjects we found a mild impairment of sweating without thermoregulatory problems. The persistence of a sudomotor vasoactive intestinal peptide-immunoreactive (VIP-ir) innervation, although deranged and poor, definitely differentiated Holmes-Adie from Ross patients. Ross syndrome is a progressive and complex disorder of thermoregulation difficult to differentiate from the probably pathogenetically related Holmes-Adie syndrome. Sweating assessment and skin biopsy are suitable tools to define a boundary between them. Owing to the large number of Ross patients observed in only 5 years, and to the long and complex medical history of most of them, doubts arise on the effective rarity of this condition, and we warn family doctors and other specialists, besides neurologists, to become aware of this complex disorder.
Nolano
Maria
M
Neurology Department, S. Maugeri Foundation, I.R.C.C.S. Centre of Telese, Terme, BN, Italy. mnolano@fsm.it
Provitera
Vincenzo
V
Perretti
Anna
A
Stancanelli
Annamaria
A
Saltalamacchia
Anna Maria
AM
Donadio
Vincenzo
V
Manganelli
Fiore
F
Lanzillo
Bernardo
B
Santoro
Lucio
L
D000270:Adie Syndrome / Q000175:diagnosis; D000328:Adult; D001706:Biopsy; D001833:Body Temperature Regulation; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D017933:Peripheral Nervous System / Q000473:pathology / Q000503:physiopathology; D012021:Reflex, Abnormal; D012678:Sensation Disorders / Q000473:pathology / Q000503:physiopathology; D012867:Skin / Q000294:innervation* / Q000473:pathology; D013546:Sweating; D013577:Syndrome; D015845:Tonic Pupil / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology