Worry About
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Absence of sweat leads to impaired thermoregulation.
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Insensitivity to superficial and deep painful stimuli with intact tactile perception; still require considerable amounts of inhalational or IV anesthetics to maintain hemodynamic stability and obtund stress response to airway manipulation.
Overview
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Innervation of the eccrine sweat glands is lacking; heat loss by evaporation is impaired.
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Absent mucous glands from resp tract and esophagus; frequent resp infections.
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Partial or complete absence of teeth.
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Hypotrichosis (absent hair).
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Self-mutilating behavior and mental retardation.
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Characteristic facies: Prominent supraorbital ridges, depressed bridge and root of nose, large deformed ears, thick lips, underdeveloped maxilla and mandible.
Etiology
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Sex-linked autosomal recessive disorder.
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Human TRKA ( NTRK1 ) encodes the RTKs for NGF and is the gene responsible.
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Full expression only in males; carrier females may be mildly affected.
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