Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.
Autosomal dominant inheritance of a syndrome comprising palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy (HMSN) was observed in three generations of one family. Nail dystrophy affected the toe and fingernails; it was present at birth or developed during early childhood. Palmoplantar keratoderma became apparent in later childhood. Each subject with nail dystrophy and keratoderma also had clinical or electrophysiological evidence of axonal neuropathy.
Tolmie
J L
JL
Duncan Guthrie Institute of Medical Genetics, Glasgow.
Wilcox
D E
DE
McWilliam
R
R
Assindi
A
A
Stephenson
J B
JB
D002648:Child; D005260:Female; D005799:Genes, Dominant; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed / Q000235:genetics*; D010375:Pedigree