By vgreene, 11 April, 2017
By vgreene, 11 April, 2017
By vgreene, 11 April, 2017
(BMJ)—An 8-yo, otherwise healthy girl on no meds presented w/ a tuft of hair on her neck that had been present since she was 1 yo. No hx of trauma or topical exposure. FHx: Negative. Exam: Thick hair tuft over hyoid; underlying skin and rest of exam NL. What is the dx?
Drug reaction
Anterior cervical hypertrichosis
Hirsutism
Hypertrichosis lanuginosa congenita
Anorexia nervosa
You are correct. Anterior cervical hypertrichosis (ACH), or hairy throat syndrome, is a rare form of local hair growth at the midline of the neck. For most affected pts, this anomaly represents only an aesthetic problem that is treated by simple hair removal. However, in some cases, ACH may be a part of a more complex d/o (22.5% of reported cases). The most common associated disorders involve neurological abnormalities (mental retardation, peripheral sensory and motor neuropathy), ophthalmological disorders (optic atrophy, chorioretinal changes), hallux valgus, and dorsal hypertrichosis.

BMJ Case Reports 2016; doi:10.1136/bcr-2016-217891