Anterior Cervical Hypertrichosis (Hairy Throat Syndrome): Pediatric Case Report and Brief Literature Review

Introduction

Anterior cervical hypertrichosis (ACH), also known as “hairy throat syndrome,” is a rare condition characterized by the presence of a well-defined patch of excessive terminal hair on the anterior aspect of the neck, usually along the midline. It is most often congenital and discovered in early childhood, although some cases may present later [1,2]. The skin underneath the hair typically appears normal, without pigmentation changes, induration, or other cutaneous abnormalities. The condition is generally benign and asymptomatic; however, previous reports have described occasional associations with neurological, skeletal, and ophthalmological abnormalities including peripheral neuropathy, hallux valgus, optic atrophy, and spinal dysraphism [1,3,4]. Therefore, careful clinical assessment and selective investigations may be warranted in some patients depending on the clinical presentation and family history [1-5].

The pathogenesis of ACH is not completely understood but is hypothesized to arise from localized disturbances in hair follicle development during embryogenesis. There is no clear evidence of hereditary transmission in most cases, although rare familial occurrences have been described. Management is generally conservative, focusing on observation and reassurance. In cases where cosmetic concerns are significant, options such as laser hair removal may be considered [3,4].

It is essential to create increased awareness among dermatologists and pediatricians considering its rare occurrence and the potential for misinterpretation or unnecessary investigations. Early recognition and reassurance can prevent parental anxiety and help avoid excessive diagnostic procedures [5].

In this report, we present a case of ACH in a healthy child with no associated systemic abnormalities. We aim to highlight the typical clinical features, discuss the differential diagnoses, and the importance of clinical recognition and parental reassurance in managing this rare condition.

Case Report

A 4-year-old medically healthy female child presented to the outpatient clinic with a primary concern of localized excessive hair over the anterior aspect of the neck (Figure 1). The excessive hair growth was noted since birth and has remained unchanged in character or distribution. The excessive hair was localized and presented as a well-defined patch of terminal hair on the anterior neck. There were no associated skin lesions, swelling, pain, or other systemic symptoms. The child did not report any constitutional symptoms such as fever, weight loss, or lethargy. A thorough systemic review was conducted and found to be unremarkable for any neurological complaints.

‎

Upon physical examination, the child appeared well and active. Examination of the neck showed the presence of a well-localized patch of thick terminal hair over the anterior cervical region, with no associated masses, discoloration, or tenderness. Neurological examination did not reveal any signs of central nervous system involvement such as abnormal reflexes, gait disturbance, or limb weakness.

The patient’s past medical history is significant for ptosis, which has since been resolved without the need for surgical intervention. She also has a history of hypermetropia and is currently under regular follow-up with ophthalmology. Her developmental history is normal. There was no history of parental consanguinity. However, family history is notable for a sibling diagnosed with spina bifida, which prompted consideration of possible underlying spinal or neural tube abnormalities in this patient.

Based on the clinical findings and family history, a detailed evaluation plan was initiated. The patient was referred for further assessment by pediatric dermatology consultation. Parents were counseled and educated about the possible causes and implications of hypertrichosis, including rare associations with underlying spinal anomalies such as spinal dysraphism. Considering the reported associations of ACH with skeletal abnormalities and spinal dysraphism, along with the family history of spina bifida, selective investigations were performed. An x-ray of the foot was obtained to evaluate for skeletal abnormalities such as hallux valgus reported in previous cases, while a spinal x-ray was performed as an initial screening tool for occult spinal defects. Neck ultrasound was selected as a noninvasive modality to exclude underlying soft tissue abnormalities. As the patient had no neurological symptoms or abnormal neurological examination findings, advanced imaging such as magnetic resonance imaging was not deemed necessary. All investigations were within normal limits.

Ethical Considerations

Written informed consent for publication of the patient’s clinical information and photographs was obtained from the patient’s legal guardians. The study was conducted in accordance with institutional ethical standards and the principles of the Declaration of Helsinki. The authors obtained written consent from patients for their photographs and medical information to be published in print and online, and with the understanding that this information may be publicly available. Patient consent forms were not provided to the journal but are retained by the authors.

Discussion

ACH, also known as “hairy throat,” is a rare form of localized hypertrichosis characterized by the presence of a localized patch of terminal hair on the front of the neck. Approximately 40 cases of ACH have been reported in the literature to date, as summarized in Table 1. While ACH is typically an isolated finding, it can be associated with systemic conditions such as neurological abnormalities (peripheral neuropathy, developmental delay, and mental retardation), ophthalmological disorders (optic atrophy, chorioretinal changes), hallux valgus, and dorsal hypertrichosis. Therefore, it is highly recommended to take a detailed family history and conduct comprehensive clinical examinations and investigations (neurological and ophthalmological assessments, electromyography, and x-ray of the feet) for all patients with ACH to rule out any potential associated abnormalities.

Trattner et al (as reviewed by Megna et al [1]) first reported ACH in three patients from Arab families with consanguineous marriages. All three patients exhibited peripheral neuropathy and bilateral hallux valgus, while one also had bilateral optic nerve atrophy and macular dysfunction. Tsukahara and Kajii [3] later documented ACH in seven members of a Japanese family across three generations with no other associated pathology found, except for one patient with Turner syndrome. ACH has been observed in individuals ranging from birth to early childhood [4], with both familial and sporadic cases reported. The inheritance patterns vary among hereditary cases, typically following an autosomal dominant pattern, though autosomal recessive and X-linked dominant inheritance have also been noted [4]. Additionally, there are sporadic cases with no family history of the condition [2-5].

Our patient represents a sporadic presentation of ACH, as there was no family history of the condition or evidence of associated neurological or skeletal abnormalities on evaluation. Although the patient had a history of resolved ptosis and hypermetropia, no syndromic association was identified. Previous literature reviews have reported peripheral sensory and motor neuropathy as the most commonly associated abnormality, followed by hallux valgus and ophthalmological findings [4-10]. While ACH is primarily a benign cosmetic condition that may cause psychological distress, awareness of its occasionally reported systemic associations remains important. Appropriate clinical assessment, selective investigations guided by history and examination findings, and parental reassurance are essential components of management. Cosmetic treatment options including laser epilation, electrolysis, and intense pulsed light therapy may be considered in selected cases when aesthetic concerns arise [5].