Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia.
Two siblings are reported with an autosomal recessive syndrome characterized by hair and skin abnormalities, hypoplastic nails, generalized hypotonia, absent reflexes, and progressive neurologic deterioration. Although this disorder shares clinical features with an ectodermal dysplasia syndrome with neurodegenerative changes, no specific neuropathologic findings were present. Instead, trichorrhexis invaginata was found in some hair shafts. Hair analysis may be helpful in classifying clinically confusing neurologic conditions.
Gyure
K A
KA
Department of Pediatrics, Medical College of Ohio, Toledo 43699-0008.
Kurczynski
T W
TW
Gunning
W
W
French
B N
BN
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics*; D006197:Hair / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000235:genetics*; D009460:Neurologic Examination