Overview
Focal facial dermal dysplasia type IV (FFDD IV), also known as Brauer syndrome type IV or Setleis syndrome, is a very rare genetic skin condition that primarily affects the face. It is present from birth and is characterized by distinctive skin changes on the face, particularly around the temples. People with this condition may have areas of thin or absent skin (called aplasia cutis) on the temples that look like small, round, scar-like depressions or puckered marks. These lesions can sometimes resemble forceps marks from delivery, which may delay correct diagnosis. Additional facial features can include absent or multiple rows of eyelashes, a flattened or broad nasal bridge, and puckered skin around the lips that gives a distinctive facial appearance. The condition is caused by changes in the TWIST2 gene, which plays an important role in the development of skin and facial structures during fetal growth. FFDD IV is mainly a cosmetic concern, and it does not typically affect internal organs or shorten lifespan. Treatment is largely supportive and cosmetic. Dermatologists and plastic surgeons may help manage the appearance of skin lesions. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Key symptoms:
Scar-like depressions on the temples present at birthThin or absent skin on the face (aplasia cutis)Absent eyelashes on upper or lower eyelidsMultiple rows of eyelashes (distichiasis)Puckered or wrinkled skin around the lipsFlat or broad nasal bridgeSlanted eyebrows that appear leonine or coarsePuffy or swollen-looking upper eyelidsChin with a dimple or cleftSparse or absent eyebrowsRubbery or abnormal skin texture on the face
Clinical phenotype terms (17)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Focal facial dermal dysplasia type IV.
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Specialists
View all specialists →No specialists are currently listed for Focal facial dermal dysplasia type IV.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Focal facial dermal dysplasia type IV.
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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.How certain is the diagnosis, and should we pursue genetic testing to confirm it?,Are there any eye problems we should watch for related to the eyelash abnormalities?,At what age might cosmetic surgery be appropriate for the temple lesions?,What is the chance of having another child with this condition?,Should other family members be tested for the TWIST2 gene change?,Are there any specialists we should see regularly as my child grows?,What resources are available for emotional or psychological support?
Common questions about Focal facial dermal dysplasia type IV
What is Focal facial dermal dysplasia type IV?
Focal facial dermal dysplasia type IV (FFDD IV), also known as Brauer syndrome type IV or Setleis syndrome, is a very rare genetic skin condition that primarily affects the face. It is present from birth and is characterized by distinctive skin changes on the face, particularly around the temples. People with this condition may have areas of thin or absent skin (called aplasia cutis) on the temples that look like small, round, scar-like depressions or puckered marks. These lesions can sometimes resemble forceps marks from delivery, which may delay correct diagnosis. Additional facial features
How is Focal facial dermal dysplasia type IV inherited?
Focal facial dermal dysplasia type IV follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Focal facial dermal dysplasia type IV typically begin?
Typical onset of Focal facial dermal dysplasia type IV is neonatal. Age of onset can vary across affected individuals.