Focal facial dermal dysplasia type II

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ORPHA:398173OMIM:614973Q82.8
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Overview

Focal facial dermal dysplasia type II (FFDD II), also known as Brauer syndrome, is a rare inherited skin condition that primarily affects the skin on the face, especially around the temples. People with this condition are born with small, round, scar-like areas of thin or absent skin on both sides of the face, typically near the temples. These lesions look like small depressions or puckered scars and are present from birth. The underlying tissue beneath these skin defects may also be thinner than normal. FFDD type II is one of several types of focal facial dermal dysplasia. What makes type II distinct is that the skin lesions are usually limited to the temple areas and are inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is needed to cause the condition. Unlike some other types of FFDD, type II is generally not associated with other major birth defects or systemic health problems. There is no cure for FFDD type II, and treatment is mainly cosmetic. The scar-like marks are usually stable and do not worsen over time. Some individuals may choose cosmetic procedures such as skin grafting or laser treatments to improve the appearance of the affected areas, though many people live comfortably without any intervention. The condition does not typically affect overall health or lifespan, and most individuals lead normal, healthy lives.

Also known as:

Key symptoms:

Scar-like skin depressions on the temples from birthThin or absent skin patches on the facePuckered or dimpled appearance of the skin near the templesSkin lesions that look like round or oval scarsThinning of the tissue beneath the affected skin areasLesions usually present on both sides of the facePossible mild hair loss in the affected skin areas

Clinical phenotype terms (13)— hover any for plain English
TrichiasisHP:0001128Curved linear dimple below the lower lipHP:0002055DistichiasisHP:0009743Bitemporal forceps marksHP:0011336Small earlobeHP:0000385Generalized hypertrichosisHP:0004554Ectropion of lower eyelidsHP:0007651Absent earlobeHP:0000387Lop earHP:0000394
Inheritance

Autosomal dominant

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

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 Focal facial dermal dysplasia type II.

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No actively recruiting trials found for Focal facial dermal dysplasia type II at this time.

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No specialists are currently listed for Focal facial dermal dysplasia type II.

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 Focal facial dermal dysplasia type II.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Can you confirm that my child's skin lesions are FFDD type II and not another condition?,Is genetic testing available to confirm the diagnosis?,What cosmetic treatment options are available, and at what age can they be considered?,Will the skin lesions change or worsen as my child grows?,What is the chance of passing this condition to future children?,Are there any other health problems I should watch for?,Can you recommend psychological support resources for coping with visible facial differences?

Common questions about Focal facial dermal dysplasia type II

What is Focal facial dermal dysplasia type II?

Focal facial dermal dysplasia type II (FFDD II), also known as Brauer syndrome, is a rare inherited skin condition that primarily affects the skin on the face, especially around the temples. People with this condition are born with small, round, scar-like areas of thin or absent skin on both sides of the face, typically near the temples. These lesions look like small depressions or puckered scars and are present from birth. The underlying tissue beneath these skin defects may also be thinner than normal. FFDD type II is one of several types of focal facial dermal dysplasia. What makes type II

How is Focal facial dermal dysplasia type II inherited?

Focal facial dermal dysplasia type II follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Focal facial dermal dysplasia type II typically begin?

Typical onset of Focal facial dermal dysplasia type II is neonatal. Age of onset can vary across affected individuals.