Focal facial dermal dysplasia type I

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ORPHA:79133OMIM:136500Q82.8
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Overview

Focal facial dermal dysplasia type I (FFDD type I), also known as Brauer syndrome or hereditary symmetrical aplastic nevi of temples, is a rare inherited skin condition that mainly affects the skin on the face, particularly around the temples (the sides of the forehead). The most noticeable feature is small, scar-like or pitted areas of skin on both sides of the face near the temples. These marks are present from birth and look similar to scars left by forceps during delivery, which is why they are sometimes called 'forceps marks.' The skin in these areas is thinner than normal and may appear slightly sunken or dimpled. The condition is caused by a problem in the development of the skin during fetal growth. Unlike many other skin conditions, FFDD type I is generally limited to these facial skin changes and does not typically affect internal organs or cause serious health problems. The marks are permanent but do not usually get worse over time. Some people may also have very mild changes to nearby facial structures, but the condition is mostly cosmetic in nature. There is no cure for FFDD type I, and treatment focuses on managing the appearance of the skin lesions. Options may include cosmetic camouflage, dermatological procedures, or simply monitoring the areas over time. Because the condition is so rare, most people benefit from seeing a dermatologist and a clinical geneticist to confirm the diagnosis and discuss options.

Also known as:

Key symptoms:

Small scar-like or pitted marks on the skin near the temples (sides of the forehead)Skin marks present on both sides of the face (symmetrical)Thinning of the skin in affected areasSlightly sunken or dimpled appearance of the skin at the templesMarks that look similar to forceps scars from birthPermanent skin changes that do not typically worsen over time

Clinical phenotype terms (17)— hover any for plain English
Thick upper lip vermilionHP:0000215Depressed nasal tipHP:0000437Absent eyelashesHP:0000561Aplasia cutis congenitaHP:0001057Sparse lateral eyebrowHP:0005338Spotty hyperpigmentationHP:0005585Spotty hypopigmentationHP:0005590DistichiasisHP:0009743Skin dimpleHP:0010781Vertical forehead creasesHP:0011221
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 I.

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

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

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 I.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Is my diagnosis of FFDD type I confirmed, and what tests were used to reach this conclusion?,Should I have genetic testing, and what does this mean for my family members or future children?,What cosmetic or dermatological treatments are available to improve the appearance of the skin marks?,Are there any complications I should watch for over time?,Where can I find a specialist with experience in this condition?,Are there any patient support groups or communities for people with FFDD type I or similar conditions?,What should I tell my child's school or other caregivers about this condition?

Common questions about Focal facial dermal dysplasia type I

What is Focal facial dermal dysplasia type I?

Focal facial dermal dysplasia type I (FFDD type I), also known as Brauer syndrome or hereditary symmetrical aplastic nevi of temples, is a rare inherited skin condition that mainly affects the skin on the face, particularly around the temples (the sides of the forehead). The most noticeable feature is small, scar-like or pitted areas of skin on both sides of the face near the temples. These marks are present from birth and look similar to scars left by forceps during delivery, which is why they are sometimes called 'forceps marks.' The skin in these areas is thinner than normal and may appear

How is Focal facial dermal dysplasia type I inherited?

Focal facial dermal dysplasia type I 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 I typically begin?

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