Hypertrichosis, Anterior Cervical

Tsukahara and Kajii (1992) described a Japanese family with 7 affected members in 3 generations with anterior cervical hypertrichosis just cephalad to the laryngeal prominence. Several of these individuals repeatedly shaved their necks because of the hair growth. The hair was first noted after age 3 years. There were no other physical problems in the family except that the proposita also had Turner syndrome due to isochromosome of the long arm of the X chromosome: 46,i(Xq). Braddock et al. (1995) reported a similar case of anterior cervical hypertrichosis without other abnormalities. The father was 36 years old at the time of the girl's birth, suggesting that this might be an instance of new dominant mutation with paternal age effect. This disorder may be distinct from the anterior cervical hypertrichosis associated with peripheral neuropathy (239840), which has been proposed to be an autosomal recessive.