Epidermolysis bullosa simplex with mottled pigmentation

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ORPHA:79397OMIM:131960Q81.0
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15Specialists8Treatment centers

Where are you in your journey?

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

Also known as:

Clinical phenotype terms— hover any for plain English:

Mottled pigmentationHP:0001070Lamina lucida cleavageHP:0003341Reticulated skin pigmentationHP:0007427Skin fragility with non-scarring blisteringHP:0007585Mixed hypo- and hyperpigmentation of the skinHP:0009123Nail dysplasiaHP:0002164Spotty hypopigmentationHP:0005590Plantar hyperkeratosisHP:0007556Hypomelanotic maculeHP:0009719Palmar hyperkeratosisHP:0010765Hyperkeratotic papuleHP:0045059
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Epidermolysis bullosa simplex with mottled pigmentation.

View clinical trials →

No actively recruiting trials found for Epidermolysis bullosa simplex with mottled pigmentation at this time.

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Search ClinicalTrials.gov ↗Join the Epidermolysis bullosa simplex with mottled pigmentation community →

Specialists

15 foundView all specialists →
LP
Luz Velazquez Perdomo
BRONX, NY
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
EC
Eliana Cella
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
GM
Graciela Manzur
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
JC
Jen-Ping Chao
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
JL
Jing-Yi Lin
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
CC
Cheng-Ying Chiang
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
TH
Tyng-Shiuan Hsieh
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
AI
Agustín Izquierdo
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
RA
Romina Andrada
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
MN
Mónica Natale
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
SL
Silvina B Lusso
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
MB
Maria Del Carmen Boente
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
MP
Maria I Prado
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
SF
Silvina De Freijo
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication
LV
Laura E Valinotto
Specialist
1 Epidermolysis bullosa simplex with mottled pigmentation publication

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 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

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Epidermolysis bullosa simplex with mottled pigmentation.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Epidermolysis bullosa simplex with mottled pigmentation

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Epidermolysis bullosa simplex with mottled pigmentation

Which specialists treat Epidermolysis bullosa simplex with mottled pigmentation?

15 specialists and care centers treating Epidermolysis bullosa simplex with mottled pigmentation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.