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 featu res including hypotelorism, short stature, and cleft palate occur in some p atients. Objective: To further characterize the clinical, neurologic, and c raniofacial features in 27 patients from seven families with HNA. Methods: Medical history, physical examination, and facial measurements were obtaine d. Facial measurements were also made on 60 healthy controls. Results: Twen ty-five patients had an average of three attacks of brachial neuritis. The right arm was involved more frequently. Cleft palate was present in four in dividuals. Facial measurements showed significant hypotelorism in HNA patie nts versus controls. Unusual skin folds and creases were observed on the ne cks of several individuals as well as on the scalp of one man: cutis vertic is gyrata. In three families, deep skin creases were present on the limbs o f infants and toddlers who were subsequently affected with HNA. Conclusions : The phenotypic consequences of the mutant hereditary neuralgic atrophy ge ne may include a wider spectrum than previously appreciated and involve non neural tissue.