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An 8-year-old previously healthy girl, was referred to our clinic with a symptom of a tuft of terminal hair on the anterior neck region (figures 1 and 2). The underlying skin had no pigmentary changes. According to the parents, the localised hair had started to appear at 1 year of age and there was no history of preceding trauma, inflammation, radiation or use of topical and systemic drugs. Complete physical examination, including neurological and ophthalmological examination, did not reveal other comorbidities. Her parents were not consanguineous and the family history was negative for this disorder. Clinical features were consistent with the diagnosis of anterior cervical hypertrichosis (ACH) or hairy throat syndrome, which is a rare form of local hair growth at the midline of the neck.
ACH occurs at birth or during early childhood and it can be acquired or congenital, although the inheritance pattern remained to be determined. Among the reported cases, there is a significant female predominance. For most of the affected patients, this anomaly represents only an aesthetic problem; however, in some cases ACH may be a part of a more complex disorder (22.5% of reported cases).1 The most common associated disorders reported in the literature involve neurological abnormalities (mental retardation, peripheral sensory and motor neuropathy), ophthalmological disorders (optic atrophy and chorioretinal changes), hallux valgus and dorsal hypertrichosis.1 ,2
Anterior cervical hypertrichosis (ACH) may be only an isolated finding, not affecting the healthy development of the child. Nonetheless, it may be a sign of an underlying condition, including neurological and ocular disorders.
In order to recognise this rare entity it is imperative to provide detailed physical examination and clinical history to exclude the associated abnormalities that may be present in patients with ACH.
As the most cases of ACH represent only a cosmetic problem for the patient, simple hair removal is recommended.
Contributors KK and FS made the diagnosis and performed the complete investigation and were involved in the management of the patient. KK and FS wrote the manuscript and performed the literature search. FS and MH corrected the manuscript and gave conceptual advice. All authors read and approved the final version of the manuscript.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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