Isolated anterior cervical hypertrichosis

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ORPHA:3387OMIM:600457L68.2
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Overview

Isolated anterior cervical hypertrichosis is an extremely rare condition characterized by a localized patch of excessive hair growth (hypertrichosis) on the front of the neck (anterior cervical region). This tuft of hair is typically present at birth or develops in early childhood and is usually the sole clinical finding, distinguishing it from syndromic forms of cervical hypertrichosis that may be associated with other anomalies such as intellectual disability, peripheral neuropathy, or kyphoscoliosis. The hair patch is generally well-circumscribed and may consist of fine, long hair that is darker or more prominent than surrounding body hair. The condition primarily affects the skin and hair follicles of the anterior neck region without involvement of other organ systems. Isolated anterior cervical hypertrichosis is a benign condition and does not typically cause medical complications. Because it is an isolated cosmetic finding, no specific medical treatment is required. However, individuals who are bothered by the appearance of the hair patch may pursue cosmetic hair removal options such as shaving, waxing, laser hair removal, or electrolysis. The condition has been reported in a very small number of families and sporadic cases in the medical literature. Both autosomal dominant and autosomal recessive inheritance patterns have been described in different families, suggesting genetic heterogeneity. The underlying genetic cause has not been fully elucidated. Genetic counseling may be offered to affected families to discuss recurrence risks.

Also known as:

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Isolated anterior cervical hypertrichosis.

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No actively recruiting trials found for Isolated anterior cervical hypertrichosis at this time.

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No specialists are currently listed for Isolated anterior cervical hypertrichosis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Isolated anterior cervical hypertrichosis.

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Community

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Common questions about Isolated anterior cervical hypertrichosis

What is Isolated anterior cervical hypertrichosis?

Isolated anterior cervical hypertrichosis is an extremely rare condition characterized by a localized patch of excessive hair growth (hypertrichosis) on the front of the neck (anterior cervical region). This tuft of hair is typically present at birth or develops in early childhood and is usually the sole clinical finding, distinguishing it from syndromic forms of cervical hypertrichosis that may be associated with other anomalies such as intellectual disability, peripheral neuropathy, or kyphoscoliosis. The hair patch is generally well-circumscribed and may consist of fine, long hair that is d

At what age does Isolated anterior cervical hypertrichosis typically begin?

Typical onset of Isolated anterior cervical hypertrichosis is neonatal. Age of onset can vary across affected individuals.