Familial isolated trichomegaly

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ORPHA:411788OMIM:190330Q84.2
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Overview

Familial isolated trichomegaly is a very rare genetic condition in which a person develops unusually long, thick, and abundant eyelashes. The word 'trichomegaly' literally means 'large hair,' and in this condition, the excessive eyelash growth occurs without any other associated health problems — that is why it is called 'isolated.' It runs in families, meaning it is passed down from parent to child. Some people with this condition may also notice longer or thicker hair in other areas such as the eyebrows, but the hallmark feature is strikingly long eyelashes. While trichomegaly can sometimes be a sign of other medical conditions or a side effect of certain medications, in familial isolated trichomegaly, the long eyelashes are the only finding and are present from early life. The condition is generally considered benign, meaning it does not cause serious health problems. However, very long eyelashes can sometimes cause eye irritation, discomfort, or cosmetic concerns. In rare cases, excessively long lashes may curl inward and scratch the surface of the eye (a condition called trichiasis), which may need treatment. There is no specific cure or standard medical treatment for this condition. Management is focused on addressing any eye-related symptoms, such as trimming the eyelashes if they cause irritation or seeking ophthalmologic care if the lashes affect the eyes. Because the condition is inherited, genetic counseling may be helpful for affected families who want to understand the chances of passing it on to future children.

Key symptoms:

Unusually long eyelashesThick or dense eyelashesExcessive eyelash growthPossible eye irritation from long lashesEyelashes curling inward and touching the eye surfaceLonger or thicker eyebrow hair in some casesCosmetic concerns about eyelash appearanceWatery or tearing eyes due to lash contact

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial isolated trichomegaly.

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No actively recruiting trials found for Familial isolated trichomegaly at this time.

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No specialists are currently listed for Familial isolated trichomegaly.

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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 Familial isolated trichomegaly.

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Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.Could my child's long eyelashes be a sign of any other medical condition?,Should we have genetic testing done to confirm the diagnosis?,How often should my child have eye exams to check for corneal irritation?,What is the safest way to trim the eyelashes if they cause discomfort?,What are the chances of passing this condition to future children?,Are there any treatments if the lashes start turning inward and scratching the eye?,Should other family members be evaluated?

Common questions about Familial isolated trichomegaly

What is Familial isolated trichomegaly?

Familial isolated trichomegaly is a very rare genetic condition in which a person develops unusually long, thick, and abundant eyelashes. The word 'trichomegaly' literally means 'large hair,' and in this condition, the excessive eyelash growth occurs without any other associated health problems — that is why it is called 'isolated.' It runs in families, meaning it is passed down from parent to child. Some people with this condition may also notice longer or thicker hair in other areas such as the eyebrows, but the hallmark feature is strikingly long eyelashes. While trichomegaly can sometimes

How is Familial isolated trichomegaly inherited?

Familial isolated trichomegaly follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Familial isolated trichomegaly typically begin?

Typical onset of Familial isolated trichomegaly is childhood. Age of onset can vary across affected individuals.