Overview
Focal facial dermal dysplasia (FFDD) is a rare inherited skin condition that primarily affects the skin on the face, especially around the temples and occasionally near the chin or forehead. The condition is present at birth and is characterized by small, round, scar-like marks or depressions on the skin of the face, typically on both sides (bilateral). These lesions look like healed wounds or puckered scars, even though no injury has occurred. The skin in these areas may be thin, shiny, or slightly indented. In some cases, the underlying tissue beneath the skin may also be underdeveloped. There are several types of focal facial dermal dysplasia (types I through IV), which differ based on the specific gene involved and the pattern of inheritance. Some types are also known as Brauer syndrome or Setleis syndrome. Additional features may include absent or sparse eyelashes, eyebrow abnormalities (such as multiple rows of eyelashes or missing portions of eyebrows), and occasionally other facial features like a flattened nose or puffy-looking skin around the eyes. There is currently no cure for focal facial dermal dysplasia. Treatment is mainly supportive and cosmetic. Dermatologists and plastic surgeons may help improve the appearance of the skin lesions. The condition does not typically affect overall health or lifespan, and most individuals live normal, healthy lives. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Also known as:
Key symptoms:
Scar-like marks on the temples present at birthThin or shiny skin patches on the faceSmall round depressions or pits on the facial skinAbsent or sparse eyelashesAbnormal eyebrows (missing sections or extra rows)Puffy or swollen-looking skin around the eyesFlattened or broad noseSkin that looks like it has healed from a woundUnderdeveloped tissue beneath facial skinLip abnormalities in some casesChin dimpling or clefting in some cases
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Focal facial dermal dysplasia.
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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.
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Caregiver Resources
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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.What type of focal facial dermal dysplasia does my child have, and what gene is involved?,What is the inheritance pattern, and what is the chance of having another affected child?,Are there any cosmetic treatments or procedures that could improve the appearance of the skin lesions?,Should my child see an eye doctor because of eyelash or eyebrow abnormalities?,Are there any other health problems associated with this condition that we should watch for?,Can you recommend a genetic counselor for our family?,Are there any clinical trials or research studies we could participate in?
Common questions about Focal facial dermal dysplasia
What is Focal facial dermal dysplasia?
Focal facial dermal dysplasia (FFDD) is a rare inherited skin condition that primarily affects the skin on the face, especially around the temples and occasionally near the chin or forehead. The condition is present at birth and is characterized by small, round, scar-like marks or depressions on the skin of the face, typically on both sides (bilateral). These lesions look like healed wounds or puckered scars, even though no injury has occurred. The skin in these areas may be thin, shiny, or slightly indented. In some cases, the underlying tissue beneath the skin may also be underdeveloped. Th
At what age does Focal facial dermal dysplasia typically begin?
Typical onset of Focal facial dermal dysplasia is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Focal facial dermal dysplasia?
15 specialists and care centers treating Focal facial dermal dysplasia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.