Familial disorder characterized by anhidrosis present
at birth and resulting in heat intolerance. Muscarinic stimulation results
in significantly reduced sweat production (10-50% of normal).
Extremely rare; only a few cases reported.
X-linked inheritance as the disorder in
mothers appears to be less severe than observed in their sons.
Reduced reaction to muscarinic stimulation of
Three types of generalized anhidrosis:
1. Ectodermal dysplasia with anomalies of hair, sweat glands, and teeth,
with or without additional congenital defects.
2. Ectodermal dysplasia with no other defects except for morphologically and
functionally abnormal sweat glands.
3. Isolated ectodermal dysplasia with no other anomalies. The clinical
history of heat intolerance and the markedly reduced response to muscarinic
stimulation of the sweat glands (10% in males and approximately 50% of
normal in affected females) are characteristic. However, the sweat glands
appear to be morphologically normal on biopsy, and autonomic cardiovascular
response is normal. A postganglionic defect has been suggested.
Reduced sweating capability results in heat
Check the teeth for damage (and
document them clearly); otherwise routine preoperative assessment.
Careful perioperative temperature
monitoring is necessary to prevent intraoperative hyperthermia. Careful direct laryngoscopy
is required in the presence of preexisting dental defects.
Muscarinic antagonists (e.g.,
atropine) should be avoided in the presence of an already reduced sweat
Hereditary Motor Sensory Neuropathies (HMSN): Overview: Genetic
neurodegenerative disorder (peripheral nerve degeneration involving small
fiber) characterized by congenital insensitivity to pain (resulting in
painless injuries), episodic fever (hot weather) resulting from anhidrosis,
autonomic disorders, mental retardation, short stature, self-mutilation, and
Van den Bosch Syndrome: Transmitted as an X-linked recessive
trait. Associated with mental deficiency, choroideremia, acrokeratosis
verruciformis, and skeletal deformities. The syndrome is extremely rare and
has been described in only a single kindred.
Helweg-Larsen Syndrome (Anhidrosis-Congenital
Neurolabyrinthitis; Anhidrosis-Neurolabyrinthitis Syndrome): Anhidrosis is
present from birth. Ectodermal dysplasia and neurolabyrinthian deafness
developing in the fourth or fifth decade of life.
Dann EJ, Epstein Y, Sohar E: Familial generalized anhidrosis. Isr J Med Sci
Ingber A: Familial generalized anhidrosis. Israel J Med Sci
26: 457, 1990.