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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 sweat glands.

Three types of generalized anhidrosis:

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

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

  3. 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 intolerance.

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 function.

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 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 developing in the fourth or fifth decade of life.

Dann EJ, Epstein Y, Sohar E: Familial generalized anhidrosis. Isr J Med Sci 26:451, 1990.  [PubMed: 2401610]
Ingber A: Familial generalized anhidrosis. Israel J Med Sci 26: 457, 1990.  [PubMed: 2401613]

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