Genetic dermis disorder

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ORPHA:183472
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24Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Genetic dermis disorder (Orphanet code 183472) is an extremely rare inherited condition that primarily affects the skin, specifically the dermis — the thick layer of tissue beneath the outer surface of the skin. Because this is classified as a very rare condition with limited published medical literature, detailed information about its full range of symptoms and progression is not well established. The dermis provides the skin with strength, elasticity, and structure, so disorders affecting this layer can lead to problems with skin fragility, abnormal scarring, unusual skin texture, or changes in how the skin heals after injury. Patients may notice that their skin bruises easily, stretches more than normal, or does not heal well after cuts or wounds. Treatment for genetic dermis disorders is generally supportive and focused on managing symptoms, protecting the skin from injury, and addressing complications as they arise. Because this is a genetic condition, there is currently no cure, and management typically involves a team of specialists including dermatologists and clinical geneticists. If you or your child has been diagnosed with this condition, working closely with a medical team experienced in rare skin disorders is important for the best possible care.

Key symptoms:

Fragile skin that tears or bruises easilyAbnormal skin texture or appearancePoor wound healingUnusual scarring after skin injuriesSkin that may stretch more than normalThin or translucent-looking skinEasy bruising

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
Jan 2020DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study

Mayo Clinic — NA

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Genetic dermis disorder.

View clinical trials →

No actively recruiting trials found for Genetic dermis disorder at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Genetic dermis disorder community →

Specialists

24 foundView all specialists →
JM
Jeffrey Kenkel, MD
DALLAS, TX
Specialist
PI on 4 active trials
DM
Daryousch Parvizi, MD
Specialist
PI on 1 active trial
RM
Ruthie Amir, MD
Specialist
PI on 4 active trials
JM
Jennifer Levine, MD
Specialist
PI on 1 active trial
BC
Becky Clarke
Specialist
PI on 1 active trial22 Genetic dermis disorder publications
JP
Jenna Macciochi, PhD
Specialist
PI on 1 active trial
DM
David Holcomb, M.D.
Specialist
PI on 1 active trial
MM
Melinda Lacerna, M.D.
Specialist
PI on 1 active trial
AM
Adele Sparavigna, MD
Specialist
PI on 2 active trials1 Genetic dermis disorder publication
PM
Peter Dolman, MD
Specialist
PI on 1 active trial
GM
Gordon Sasaki, MD
PASADENA, CA
Specialist
PI on 3 active trials1 Genetic dermis disorder publication
CM
Cameron K Rokhsar, MD
NEW YORK, NY
Specialist
PI on 1 active trial
AM
Aris Sterodimas, MD
Specialist
PI on 1 active trial1 Genetic dermis disorder publication
RE
Rania Elhawary
Specialist
PI on 1 active trial13 Genetic dermis disorder publications
RM
Robin McIntosh
GASTONIA, NC
Specialist
PI on 2 active trials4 Genetic dermis disorder publications
JM
James Namnoum, MD
ATLANTA, GA
Specialist
PI on 1 active trial
JM
Jay Burns, MD
Specialist
PI on 2 active trials
DM
David Goldberg, MD
Specialist
PI on 2 active trials
TF
Toni Fournier
Specialist
PI on 1 active trial5 Genetic dermis disorder publications
BM
Barry DiBernardo, MD
MONTCLAIR, NJ
Specialist
PI on 1 active trial
AP
Adela Serrano Gimeno, PhD
Specialist
PI on 3 active trials
PM
Paul G Ruff IV, MD
Specialist
PI on 1 active trial
TM
Timothy Ekhlassi, MD
BELLINGHAM, WA
Specialist
PI on 1 active trial
KM
Konstantinos N. Lazaridis, M.D.
Scottsdale, Arizona
Specialist

Rare Disease Specialist

Treatment Centers

8 centers
⚗️ Trial Site

Mayo Clinic in Arizona

📍 Scottsdale, Arizona

⚗️ Trial Site

Mayo Clinic in Rochester

📍 Rochester, Minnesota

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 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

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

Travel Grants

No travel grants are currently matched to Genetic dermis disorder.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Genetic dermis disorder

Disease timeline:

New trial: DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study

Phase NA trial recruiting. Biospecimen Collection

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.What specific genetic change is causing this condition in my family?,How can we best protect the skin from injury in daily life?,What wound care products and techniques do you recommend?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested for this genetic condition?,What signs of complications should prompt an urgent visit?,Can you refer us to a specialist center experienced with rare skin disorders?

Common questions about Genetic dermis disorder

What is Genetic dermis disorder?

Genetic dermis disorder (Orphanet code 183472) is an extremely rare inherited condition that primarily affects the skin, specifically the dermis — the thick layer of tissue beneath the outer surface of the skin. Because this is classified as a very rare condition with limited published medical literature, detailed information about its full range of symptoms and progression is not well established. The dermis provides the skin with strength, elasticity, and structure, so disorders affecting this layer can lead to problems with skin fragility, abnormal scarring, unusual skin texture, or changes

Which specialists treat Genetic dermis disorder?

24 specialists and care centers treating Genetic dermis disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.