Overview
Familial anetoderma is a rare inherited skin condition in which small areas of the skin lose their normal elastic tissue, resulting in soft, sac-like outpouchings or depressions on the skin surface. The word "anetoderma" comes from a Greek term meaning "slack skin." In the familial form, this condition runs in families, unlike the more common acquired (non-inherited) forms of anetoderma. The affected skin patches typically feel soft and can be pushed inward with a finger, sometimes described as a "buttonhole" sign. These lesions can appear on the trunk, arms, and other areas of the body. The skin in these spots has lost its elasticity because the elastic fibers in the deeper layer of the skin (the dermis) have broken down or are absent. Familial anetoderma is generally considered a cosmetic concern rather than a life-threatening condition, but it can cause emotional distress due to its visible appearance. The lesions tend to persist once they develop and do not usually resolve on their own. There is currently no cure or highly effective treatment that can restore the lost elastic tissue. Management is mainly supportive and may include dermatological monitoring and, in some cases, surgical approaches for cosmetically bothersome lesions. Because this is a genetic condition, genetic counseling may be helpful for affected families who want to understand the risk of passing the condition to future generations.
Also known as:
Key symptoms:
Soft, sac-like pouches or bumps on the skinSkin depressions that can be pushed inward easilyLoss of skin elasticity in affected areasWrinkled or thin-looking patches of skinLesions on the trunk, arms, or other body areasSkin that feels loose or slack to the touchMultiple small affected areas that may increase over timeCosmetically noticeable skin changes
Clinical phenotype terms (6)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsWashington University School of Medicine — PHASE2
Complement Therapeutics
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Familial anetoderma.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Familial anetoderma.
Community
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Start the conversation →Latest news about Familial anetoderma
Disease timeline:
New recruiting trial: SGLT2 Inhibitors in Geographic Atrophy
A new clinical trial is recruiting patients for Familial anetoderma
New recruiting trial: An Observational Study in Children and Adults With Stargardt Disease
A new clinical trial is recruiting patients for Familial anetoderma
New recruiting trial: Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
A new clinical trial is recruiting patients for Familial anetoderma
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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 there any treatment that can slow down the development of new skin lesions?,Should my other family members be examined for this condition?,Would genetic testing help us understand our family's specific form of anetoderma?,Are there any surgical or cosmetic options for the most noticeable lesions?,Could this condition be a sign of any other underlying health problem?,Are there any clinical trials or new research studies I should know about?,Can you recommend resources for emotional support related to visible skin conditions?
Common questions about Familial anetoderma
What is Familial anetoderma?
Familial anetoderma is a rare inherited skin condition in which small areas of the skin lose their normal elastic tissue, resulting in soft, sac-like outpouchings or depressions on the skin surface. The word "anetoderma" comes from a Greek term meaning "slack skin." In the familial form, this condition runs in families, unlike the more common acquired (non-inherited) forms of anetoderma. The affected skin patches typically feel soft and can be pushed inward with a finger, sometimes described as a "buttonhole" sign. These lesions can appear on the trunk, arms, and other areas of the body. The s
How is Familial anetoderma inherited?
Familial anetoderma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Familial anetoderma?
Yes — 1 recruiting clinical trial is currently listed for Familial anetoderma on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Familial anetoderma?
1 specialists and care centers treating Familial anetoderma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.