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Chronic idiopathic anhidrosis.

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Chronic Idiopathrc Ahdrosis
P. A. Low, M D , R. D. Fealey, M D , S. G. Sheps, MD, W. P. D. Su, MD,
J. C . Trautmann, M D , and N. L. Kuntz, MD
We describe the cases of eight patients with chronic idiopathic anhidrosis. These patients were heat intolerant and
became hot, flushed, dizzy, dyspneic, and weak but did not sweat when the ambient temperature was high or when
they exercised. Four patients had preganglionic sudomotor lesions and in the remaining 4 the lesion appeared to be
postganglionic. T h e patients did not have orthostatic hypotension, other evidence of generalized autonomic failure, or
symptomatic somatic neuropathy. One patient regained thermoregulatory sweat function and no patient's condition
progressed to generalized autonomic failure. Chronic idiopathic anhidrosis appears to be distinctly different from
other autonomic neuropathies that tend to carry much poorer prognoses.
Low PA, Fealey RD, Sheps SG, Su WPD, Trautmann JC, Kuntz NL: Chronic idiopathic anhidrosis.
Ann Neurol 18:344-348, 1985
Generalized sudomotor failure may occur in the peripheral autonomic neuropathies such as acute
panautonomic, diabetic, and amyloid neuropathies;
Guillain-BarrC syndrome; familial dysautonomia; and
Tangier disease 11, 3 , 41. It may also occur in system
degenerations {I, 31 such as the Shy-Drager syndrome
and idiopathic orthostatic hypotension. Destructive lesions that interrupt sympathetic pathways in the brain
or spinal cord also cause widespread anhidrosis 11, 37.
In all of these conditions, symproms of thermoregulatory failure are overshadowed by more disabling autonomic symptoms (such as orthostatic hypotension and
disturbances of bowel or bladder function), by disabling somatic motor and sensory failure, or by symptoms caused by interruption of important pathways in
the brain or spinal cord. Less well described is thermoregulatory sudomotor failure existing in relative isolation. We describe the cases of 8 patients with thermoregulatory failure without other evidence of notable
dysautonomia or somatic involvement seen at the
Mayo Clinic over the past two years. T h e term chronic
idiopathic anhidrosis (CIA) is suggested.
Patients
The 8 patients ( 4 male, 4 female) ranged in age from 23 to
62 years when the diagnosis of CIA was made. The duration
of symptoms ranged from 1 to 10 years (Table). The age at
onset of symptoms ranged from 18 to 60 years in 6 patients.
In the remaining 2 patients the age of onset was uncertain
and the sweating abnormality may have been lifelong.
Symptoms of heat intolerance were characteristic. The patient would become hot, dizzy, dyspneic, weak, and flushed
but would not sweat when exposed to a hot environment or
From the Departments of Neurology, Inrernal Medicine, Dermatology, and Ophthalmology, Mayo Clinic and Mayo Foundation,
Rochester, MN 55905.
344
during protracted physical exertion. The dizziness was present both in the supine and standing positions and would clear
when the patient cooled off. Heat intolerance was a troublesome symptom but hyperthermia was avoided, as these
patients soon learned to regulate their activity and environment. Patient 1 first noted symptoms while working in a die
casting plant. He was taking a-methyldopa but no anticholinergic medication. As his symptoms were brief, clearing
with a cold shower and recurring under subsequent stresses,
it appeared unlikely that the onset was due to primary heat
exhaustion. N o other patient was taking medication that is
known to affect the sweat response.
General medical history was unremarkable in these patients except for Patients l and 2. Patient l had been hypertensive since 1950. Patient 2 had undergone a left modified
radical mastectomy in 1979 for a breast lump, which had
been determined histologically to be adenocarcinoma in situ.
She was first seen at the Mayo Clinic in 1980 for pain in her
left arm diagnosed as a mild left upper trunk brachial plexopathy with minor causalgia, which occurred after operation.
Vasospastic symptoms were common, occurring in Patients 3 to 5 and 7. Patients 4 and 7 had color changes in
their fingers of the Raynaud phenomenon type. Patient 3 had
similar symptoms in her feet. Patient 5 had flushing of her
cheeks. These 4 patients were particularly heat intolerant and
several volunteered that they were most comfortable when
the room temperature was about 15"C, when other persons
in the room would be complaining of the cold.
Investigations to exclude peripheral neuropathy or other
neurological causes of anhidrosis were undertaken. Normal
or negative studies included urinary porphyrins, fasting
chemistry group (including glucose), complete blood count,
cholesterol, protein electrophoretogram, thyroxine, and vitamin BIZ. Tests were performed as indicated clinically. Urinary 5-hydroxyindoleacetic acid in Patients 1 and 5 was normal.
Received Dec 26, 1984, and in revised form Feb 25, 1985. Accepted for publication Feb 28, 1985.
Address reprint requests to Dr Low, Department of Neurology,
Mayo Clinic and Mayo Foundation, Rochester, MN 55905.
Autonomic Features in Patients with Chronic Idiopathic Anhidrosis
Patient
No.
Age at
Onset
(yr), Sex
Duration
of Symptoms (yr)
Sweating
Salivation
Orthostatic
Hypotension
H P Recordings
SVR
Plasma
Catecholamines
N
N
ND
N
ND
ND
ND
N
TST
Q-SART
Lacrimation
N
N
N
N
N
N
N
N
N
N
N
N
-
-
ND
N
ND
ND
46 M
7
?, F
10
18, F
39, M
5
1
Abn
Abn
Abn
Abn
?.F
10
Abn
Abn
Abn
Abn
-
N
Abn
N
Abn
Abn
Abn
Abn
Abn
Abn
N
N
N
N
N
N
-
N
N
N
N
N
ND
N
60, M
35, F
1.5
7
38, M
3
-
-
-
Abn
Abn
Other Autonomic
Abnormalities
Minor causalgia
Abnormal pupil,
reduced tendon
reflexes
Partial postganglionic pupillary
sympathetic lesion
...
Postganglionic
pupillary sympathetic lesion
TST = thermoregulatory sweat test; Q-SART = quantitative sudomotor axon reflex test; H P = h e m period (R-R interval); SVR = skin
vasomotor reflexes; M = male; F = female; Abn = abnormal; N = normal; - = absent; ND = not done.
Sural nerve biopsy was performed on Patients 5 and 8. In
Patient 5, biopsied on June 2, 1983, a mild reduction of
myelinated fiber density was found. O n single teased-fiber
examination, many fibers had short internodes and about
37 % of fibers had undergone segmental remyelination.
Nerve biopsy in Patient 8 showed a minor reduction of myelinated fibers. No inflammatory infiltrate or amyloid deposits were seen in either biopsy specimen. Electromyography
and nerve conduction studies were done on 6 of the 8 patients. Results were normal in Patients l and 5. Patients 2, 4
to 6, and 8 had minor or borderline abnormalities in motor
unit potentials or nerve conduction studies.
Autonomic Investigations
The blood pressure and heart rate were recorded supine and
after standing for 1 minute in all patients. Orthostatic hypotension was not found in any patient. Skin vasomotor
reflexes (SVR), which are vasoconstrictor responses to maneuvers such as an inspiratory gasp, Valsalva maneuver, and
contralateral cold stimulus (based on 63 control subjects
aged 11 to 69 years [ 6 ] )were studied in 7 of 8 patients.
Abnormalities were found in 3 of 7 (Patients 5, 7, and 8).
Heart period (R-R interval) responses (based on 35 controls
aged 11 to 69 years) to deep breathing, tilt, and Valsalva
maneuver were studied in 5 of 8 patients and were normal in
all patients when compared with age-matched controls.
Heart period responses for deep breathing and Valsalva maneuver ranged from 12 to 30 beats per minute for deep
breathing and 1.50 to 1.64 for Valsalva ratio. Plasma catecholamines (norepinephrine and epinephrine) were measured at rest (supine) and after standing in Patients 4, 5, 6 ,
and 8. Values were normal in all patients studied.
The thermoregulatory sweat test (TST) was performed on
all patients (Figure). In this test, the patient is powdered with
an indicator powder [7] and warmed until oral temperature
rises 1°C and exceeds 37.5”C 187. Patient 1 regained considerable sudomotor function. His TST in 1978 had shown total
anhidrosis (Figure). In 1983 the sweat pattern showed normal sweating in the trunk with patchy areas of anhidrosis in
the arms and legs (Figure). The quantitative sudomotor axon
reflex test (Q-SART) 151 responses in the forearm and foot
(based on 62 control subjects aged 11 to 69 years [ 5 ] ) were
studied. These were normal for Patients 1 through 4 and
were reduced or absent in Patients 5 through 8. Absent
responses occurred in Patients 5 and 7. The sweat volumes
were reduced in the forearm (0.16; normal, greater than 1
p.Vcm2) and foot (0.53; normal, greater than 1 yVcm2) in
Patient 6. Patient 7’s forearm response was reduced (0.46;
normal, greater than 1.04 pVcm2)and the right leg response
was absent. Lacrimation and salivation were abnormal in Patient 5 only. Tearing was reduced (Schirmer’s test; right 5
mm and left 7 mm in 5 minutes [normal, greater than 15
mml).
Pupillary abnormalities were found in Patients 4, 5 , and 8.
Patient 4’s right and left pupils were 2.5 mm in the light and
3.5 and 2.0 mm, respectively, in the dark. The left pupil was
irregular and responded to accommodation and direct light
more sluggishly than the right. Atrophy of pupillary ruff and
some vermiform movements were visible on slit-lamp examination. However, neither pupil responded to dilute (0.1%)
pilocarpine. Each pupil responded poorly (1 mm) to 5%
cocaine. These tests indicate bilateral preganglionic sympathetic as well as parasympathetic impairment. Results of
pupillometry were normal in Patient 5 (latency: 0.29 and
0.29 second [controls: 0.2 to 0.35 second], and contraction:
2.19 and 2.19 mm [normal, 2 to 4 mm] for left and right
pupils, respectively). Pupillary response to loud noise was
absent and response to 1% hydroxyamphetamine hydrobromide was minimal (0.75 and 0.60 mm for right and left
pupils, respectively). These findings were consistent with
bilateral partial postganglionic sympathetic failure. Neuroophthalmological evaluation confirmed the presence of a
right Horner’s syndrome in Patient 8. Pharmacological
testing with dilute (0.1%) pilocarpine (a direct-acting mus-
Low et al: Chronic Idiopathic Anhidrosis
345
P
Patient 2 *~~
Patient 4
Patient 7
Pe
ain
t?
;t
~
normal
sweating
carinic agent) showed no evidence of parasympathetic denervation supersensitivity; 1% hydroxyamphetamine hydrobromide (an indirect-acting adrenergic agonist) showed an
absent response on the right. These findings, recorded on a
pupillometer, were interpreted as those of postganglionic
right Homer’s syndrome. Results of Schirmer’s test were
normal and there was no staining with rose bengal or fluorescein.
Summary of Putients
All patients had total or subtotal anhidrosis, and all (except
Patient 5) had otherwise normal secretomotor function
(Table). Six patients (Nos. 1, 3, 4, 6, 7, and 8) had a clear
history of previous n o d sweat response, whereas Patients 2
and 5 may have had lifelong sweat impairment. Sweat glands
appeared to be present in normal numbers on skin biopsy in
Patient 4. In Patients 1 through 4 the lesion appeared to be
preganglionic whereas Patients 5 through 8 had postganglionic sudomotor failure. Orthostatic lightheadedness was not
present in any of the patients nor was orthostatic hypotension detected in any patient. Heart period recordings were
studied in 5 of 8 patients and were consistently normal. Skin
vasomotor changes (vasospastic symptoms or reduced skin
reduced
sweating
c]
absent
sweating
Sweat patterns of patients with chronic idiopathic anhrdrosis
vasomotor reflexes) were present in 5 of 8 patients (Nos. 3
through 5 , 7, and 8).
Discussion
All our patients had widespread anhidrosis or hypohidrosis. In all patients thermoregulatory impairment
was sufficiently severe to be symptomatic. When patients exercised or when the ambient temperature was
elevated, they became hot, flushed, dizzy, dyspneic,
and weak but did not sweat. Skin vasomotor changes
were commonly present, occurring in 4 patients, but
orthostatic hypotension, reductions in plasma catecholamines and cardiac autonomic innervation, and visceral
autonomic failure were never encountered.
CIA is poorly documented. Johnson and Spalding
131 refer to congenital anhidrosis but not CIA. Appenzeller 11) provides a one-sentence description of forequarter anhidrosis suggesting that it may antedate or-
346 Annals of Neurology Vol 18 No 3 September 1985
thostatic hypotension; however, he does not cite
evidence for the statement. Harik and co-workers 127
describe a patient with postganglionic cholinergic dysautonomia with bilateral internal ophthalmoplegia,
alacrima, impaired salivation, bladder and bowel atony,
anhidrosis, and hypertension. One of our patients (No.
5) had mildly reduced tearing, xerostomia, and pupillary abnormalities but, even after 10 years of symptoms, did not have bowel or bladder involvement. We
thought that the deficits of this patient were restricted
enough to be categorized as CIA. Patient 4 had hyporeflexia and tonic pupils without denervation
supersensitivity. She could have been diagnosed as
having atypical Adie’s syndrome [l, 37, but as her
complaints were mainly thermoregulatory we preferred the diagnosis of CIA.
Sudomotor failure may result from a lesion of the
sweat gland, the postganglionic axon, or the preganglionic axon 11, 3, 4). Six of our 8 patients with CIA had
previously had normal sweating and thermoregulation,
so a congenital absence of sweat glands can be excluded in these patients. Patients 2 and 5 have had
longstanding sweat failure, so congenital anhidrosis resulting from absence of eccrine sweat glands { 1, 3 ) was
considered. This possibility was, however, ruled out as
Patient 2 had a normal Q-SART, indicating that the
postganglionic axon and sweat gland were intact 157.
Eccrine sweat glands were demonstrated histologically
in anhidrotic skin in Patient 5. The presence of a normal Q-SART over anhidrotic areas of skin in Patients
1 through 4 indicates that the lesion was likely to be
largely or wholly preganglionic in these patients. QSART responses were absent or markedly reduced
in Patients 5 through 8, indicating postganglionic
sudomotor failure. Pharmacological dissection of sympathetic innervation of the pupil studied in 3 patients
was concordant with Q-SART locahzation of the site
of the lesion. Both tests showed Patients 5 and 8 to
have postganglionic denervation and Patient 4 to have
preganglionic denervation.
However, the interpretation that the primary
sudomotor abnormality is postganglionic if the QSART response is absent may be erroneous if (1)
sweat glands are absent; (2) skin integument is changed
so that access to iontophoresed acetylcholine is denied;
or (3) chronic preganglionic denervation results in
transsynaptic degeneration of postganglionic sudomotor axons. As discussed earlier, eccrine sweat glands
were present functionally or histologically in all patients. Access is rarely a problem in certain normal
subjects with thick skin [unpublished data). Intradermally administered acetylcholine failed to evoke a QSART response in Patient 7, so the problem of access
was excluded in at least 1 of our 4 patients with a
presumed postganglionic lesion. Whether longstanding
preganglionic denervation may result in a secondary
postganglionic failure needs to be clarified with further
studies.
Two important questions are (1) Is the lesion in the
central or peripheral nervous system? and (2) What is
the prognosis? Clear answers are unobtainable because
the number of patients was small and there was
heterogeneity even within these 8 patients. We think
that the lesion is more likely peripheral (preganglionic
or postganglionic) for the following reasons: (1) Recovery of function occurred in Patient 1. As central axons
do not generate [11 whereas peripheral autonomic axons do have a capacity to regenerate, a peripheral lesion is more likely. (2) Patients 5 and 8 had evidence
of postganglionic sympathetic denervation to the
pupils. ( 3 ) Patients 2, 4 through 6, and 8 had evidence
of mild peripheral somatic sensory nerve involvement
on electrophysiological studies. Patients 5 and 8 had
evidence in surd nerve of a chronic neuropathic process. ( 4 ) No patient had signs or symptoms to implicate brain or spinal cord involvement directly. There
are some hints that CIA may be a forme fruste of acute
panautonomic neuropathy. Five of our 8 patients (Nos.
3 through 5, 7, and 8 ) had vasomotor abnormahties; 5
of 8 patients had suggestive evidence of mild somatic
involvement on electromyography or nerve biopsy
(nos. 2, 4 through 6 , and 8); and 3 patients had abnormalities of lacrimination andor pupillary innervation
(Patients 4 , 5, and 8).
The prognosis for patients with CIA appears to be
relatively good. Thermoregulatory failure has been
long standing, possibly lifelong in 2 patients (Nos. 2,
and 5). In the remaining 6 patients symptoms had been
present for 1 to 7 years (mean SD, 4.3 ? 2.4 years)
at the time of their initial visit to the Mayo Clinic.
None of these patients had developed widespread autonomic failure or symptomatic peripheral neuropathy
during that time. Follow-up since the initial visit has
been 5 years or more in 2 patients and shorter in the
others. Generahzed autonomic failure has not evolved
in any patient. Since other conditions associated with
generalized anhidrosis such as the peripheral autonomic neuropathies and system degenerations carry a
relatively poor prognosis, this lack of or slow progression and possible recovery of function should be emphasized.
*
The surd nerve biopsy on Patient 8 was kindly made available for
our review by Dr Robert T. Sherbert, Department of Neurology,
University of Miami School of Medicine, Miami, FL.
References
1. Appenzeller 0:The Autonomic Nervous System, ed 3. Amster-
dam, Elsevier Biomedical Press, 1982
2. Harik SI, Ghandout MH, Farah FS, Afifi AK: Postganglionic
cholinergic dysautonomia. Ann Neurol 1:393-396, 1977
Low et al: Chronic Idiopathic Anhidrosis
347
3. Johnson RH, Spalding J M K Disorders of the Autonomic Nervous System. Oxford, Blackwell, 1974
4. Low PA: Quantitation of Autonomic Function. In Dyck PJ,
Thomas PK, Lambert EH, Bunge R (eds): Peripheral Neuropathy. Second edition. Philadelphia, Saunders, 1984
5. Low PA, Caskey PE, Tuck RR, et al: Quantitative sudomotor
axon reflex test in normal and neuropathic subjects. Ann Neurol
14:573-580, 1983
348 Annals of' Neurology
6. Low PA, Neumann C, Dyck PJ, et al: Evaluation of skin
vasomotor reflexes by using laser doppler velocimetry. Mayo
Clin Proc 58:583-592, 1983
7. Low PA, Walsh JC, Huang CY, McLeod JG: The sympathetic
nervous system in diabetic neuropathy-a clinical and pathological study. Brain 98:341-356, 1975
8. Thomas JE, Schirger A, Fealey RD, Sheps SG: Orthostatic hypotension. Mayo Clin Proc 56:117-165, 1981
Vol 18 No 3 September 1985
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