Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells.
Lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells are regular findings in childhood NCL. They have also been described in adult NCL (ANCL) a few times, but not consistently. However, they have been considered nonspecific when not matched by similar abnormal profiles in noneccrine sweat gland epithelial cells. These conflicting reports may pose a diagnostic dilemma as outlined in the following 2 examples. Patient 1 is a 20-year-old man who developed severe tetraparesis and dementia over 2 years. Electroencephalogram was abnormal with epileptiform discharges. The patient died at age 21 years without autopsy; no other relatives are known to have a similar disease. Patient 2, a 49-year-old woman, developed ataxia and gait abnormalities when 44 years old, and, later, psychosis and dementia. The patient is still alive; no other family members are similarly affected. Both patient lacked evidence of a retinopathy clinically, funduscopically, and by electroretinography. Both patients showed lipopigments within secretory eccrine sweat gland epithelial cells which harbored unequivocal fingerprint profiles, but not within noneccrine sweat gland cells. Regular lipofuscin was observed in other cells, including skeletal muscle fibers of patient 2.
Goebel
H H
HH
Department of Neuropathology, University of Mainz Medical Center, Germany.
Warlo
I
I
Klockgether
T
T
Harzer
K
K
D000328:Adult; D002648:Child; D004439:Eccrine Glands / Q000473:pathology*; D004848:Epithelium / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008055:Lipids / Q000032:analysis*; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology*; D010860:Pigments, Biological / Q000032:analysis*; D012867:Skin / Q000473:pathology / Q000648:ultrastructure
D008055:Lipids; D010860:Pigments, Biological