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Abnormal sudomotor function in the hypomelanotic macules of tuberous sclerosis complex
R S Chudnow1, G I Wolfe, S P Sparagana
1Department of Neurology, University of Texas Southwestern Medical Center, Dallas 75235, USA.
Journal of Child Neurology
|August 29, 2000
Summary
Hypopigmented macules in tuberous sclerosis complex (TSC) patients show reduced sweat volume, not fewer sweat glands. This suggests sympathetic nerve dysfunction may cause these skin changes in TSC.
Area of Science:
- Neurology
- Dermatology
- Genetics
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder characterized by benign tumors in multiple organs.
- Hypopigmented macules are common skin manifestations of TSC.
- The underlying cause of these hypopigmented macules is not fully understood.
Purpose of the Study:
- To investigate sympathetic innervation integrity in hypopigmented macules of TSC patients.
- To assess sudomotor function in TSC-affected skin areas.
Main Methods:
- Studied nine TSC patients with hypopigmented macules (>2 cm).
- Assessed postganglionic sudomotor function using Silastic imprint and sweat collector tests.
- Induced sweating via pilocarpine nitrate iontophoresis.
- Quantified sweat droplets and volume in macules versus contralateral control skin.
Main Results:
- Reduced sweat volume was observed in hypopigmented macules compared to control skin in 4 out of 5 subjects.
- Sweat droplet counts were significantly reduced in only one of nine subjects.
- No significant difference in the number of functioning sweat glands was found in most macules.
Conclusions:
- Hypopigmented macules in TSC patients exhibit decreased sweat production, not a reduction in sweat gland number.
- Focal sympathetic nerve dysfunction is hypothesized to underlie the development of TSC-related hypopigmented macules.