Overview
Genetic mixed dermis disorder (Orphanet code 183481) is an extremely rare inherited skin condition that affects the dermis, which is the thick middle layer of the skin. The dermis contains connective tissue, blood vessels, and nerve endings, and when it is affected by this disorder, patients may experience a combination of skin abnormalities that can include changes in skin texture, thickness, elasticity, and appearance. Because this condition is classified under mixed dermis disorders, it may involve features seen in several different types of skin connective tissue problems, making diagnosis challenging. The exact symptoms can vary from person to person, but they generally involve visible and structural changes to the skin. Some patients may notice areas of skin that appear unusually thin, thick, or have an abnormal texture. The skin may be more fragile or prone to injury in some cases. Because this is a genetic condition, symptoms are typically present from birth or develop during early childhood, though the severity can differ widely among affected individuals. There is currently no cure for genetic mixed dermis disorder. Treatment focuses on managing symptoms and protecting the skin from further damage. Patients are usually cared for by dermatologists and clinical geneticists who work together to monitor the condition and provide supportive care. Due to the rarity of this condition, published medical literature is very limited, and much remains to be understood about its full clinical picture and long-term outcomes.
Key symptoms:
Changes in skin textureAbnormal skin thicknessFragile or easily damaged skinUnusual skin appearanceSkin that stretches more or less than normalAreas of thin or atrophic skinSkin scarring or wound healing problems
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Genetic mixed dermis disorder.
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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 Genetic mixed dermis disorder.
Community
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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 type of dermis disorder does my child or I have, and is genetic testing available?,What skin care products and routines do you recommend?,Are there activities I should avoid to protect my skin?,How often should I have follow-up appointments?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested?,Can you refer me to a specialist center with experience in rare skin disorders?
Common questions about Genetic mixed dermis disorder
What is Genetic mixed dermis disorder?
Genetic mixed dermis disorder (Orphanet code 183481) is an extremely rare inherited skin condition that affects the dermis, which is the thick middle layer of the skin. The dermis contains connective tissue, blood vessels, and nerve endings, and when it is affected by this disorder, patients may experience a combination of skin abnormalities that can include changes in skin texture, thickness, elasticity, and appearance. Because this condition is classified under mixed dermis disorders, it may involve features seen in several different types of skin connective tissue problems, making diagnosis
Which specialists treat Genetic mixed dermis disorder?
1 specialists and care centers treating Genetic mixed dermis disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.