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At a glance

It is a 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). Congenital insensitivity to pain and Anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy Type IV (HSAN IV) is a rare autosomal recessive neuropathy of the group of hereditary sensory and autonomic neuropathies (HSAN) characterized by insensitivity to pain, anhidrosis, and mental retardation.

Incidence

Extremely rare; only a few cases reported.

Genetic inheritance

X-linked inheritance as the disorder in mothers appears to be less severe than observed in their sons.

Pathophysiology

Reduced reaction to muscarinic stimulation of sweat glands.

Diagnosis

Three types of generalized anhidrosis:

  • Ectodermal dysplasia with anomalies of hair, sweat glands, and teeth, with or without additional congenital defects.

  • Ectodermal dysplasia with no other defects except for morphologically and functionally abnormal sweat glands.

  • 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.

Clinical aspects

Reduced sweating capability results in heat intolerance.

Precaution before anesthesia

Check the teeth for damage (and document them clearly); otherwise routine preoperative assessment.

Anesthetic considerations

Careful perioperative temperature monitoring is necessary to prevent intraoperative hyperthermia. Careful direct laryngoscopy is required in the presence of preexisting dental defects.

Pharmacological implications

Muscarinic antagonists (eg, atropine) should be avoided in the presence of an already reduced sweat function.

Other conditions to be considered

  • ☞Hereditary Sensory and Autonomic Neuropathy IV: 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 joint deformities.

  • 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 develope in the fourth or fifth decade of life.

  • Shapiro Syndrome (Finlay Marks Syndrome): Extremely rare benign periodic hypothermia. Characterized by paroxysmal episodes of sweating and hypothermia the duration and frequency of variable duration and frequency. Possible hypothalamic dysfunction. Spontaneous resolution. Electrolyte disturbances possible in the perioperative period. Careful temperature monitoring and control advised.

References

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