Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy.
BACKGROUND
Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant disorder associated with recurrent, episodic, painful, brachial neuropathy. The gene for HNA has been mapped to chromosome 17q25. Characteristic features including hypotelorism, short stature, and cleft palate occur in some patients.


OBJECTIVE
To further characterize the clinical, neurologic, and craniofacial features in 27 patients from seven families with HNA.


METHODS
Medical history, physical examination, and facial measurements were obtained. Facial measurements were also made on 60 healthy controls.


RESULTS
Twenty-five patients had an average of three attacks of brachial neuritis. The right arm was involved more frequently. Cleft palate was present in four individuals. Facial measurements showed significant hypotelorism in HNA patients versus controls. Unusual skin folds and creases were observed on the necks of several individuals as well as on the scalp of one man: cutis verticis gyrata. In three families, deep skin creases were present on the limbs of infants and toddlers who were subsequently affected with HNA.


CONCLUSIONS
The phenotypic consequences of the mutant hereditary neuralgic atrophy gene may include a wider spectrum than previously appreciated and involve nonneural tissue.
Jeannet
P Y
PY
Division of Pediatric Neurology, Children's Hospital and Regional Medical Center, Seattle, WA, USA.
Watts
G D
GD
Bird
T D
TD
Chance
P F
PF
D000293:Adolescent; D000328:Adult; D020968:Brachial Plexus Neuritis / Q000235:genetics*; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D012873:Skin Diseases, Genetic / Q000235:genetics*