Schöpf-Schulz-Passarge syndrome

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ORPHA:50944OMIM:224750Q82.8
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12Specialists8Treatment centers

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

Schöpf-Schulz-Passarge syndrome (SSPS) is a very rare inherited condition that mainly affects the skin, teeth, nails, sweat glands, and eyes. It belongs to a group of conditions called ectodermal dysplasias, which means the parts of the body that develop from a layer of tissue called the ectoderm do not form or work properly. The syndrome is also sometimes referred to by the abbreviation SSPS. The most recognizable feature of SSPS is the development of small fluid-filled cysts on the eyelids, called eyelid cysts or apocrine hidrocystomas. People with this condition often also have missing or abnormally shaped teeth, thin or brittle nails, reduced ability to sweat, and dry or thickened skin on the palms and soles. Some individuals develop benign (non-cancerous) or, in some cases, cancerous skin tumors over time, so regular skin monitoring is important. There is currently no cure for SSPS. Treatment focuses on managing individual symptoms. This may include dental care and implants for missing teeth, eye care for eyelid cysts, skin moisturizers, and regular skin cancer screenings. A team of specialists working together gives the best results. With careful monitoring and symptom management, many people with SSPS can lead fulfilling lives.

Also known as:

Key symptoms:

Small fluid-filled cysts on the eyelids (apocrine hidrocystomas)Missing or abnormally shaped teeth (hypodontia or oligodontia)Thin, brittle, or abnormally shaped nailsReduced or absent sweating (hypohidrosis)Thickened, rough skin on the palms and soles (palmoplantar keratoderma)Dry skinSparse or thin hairBenign skin tumors (such as trichoepitheliomas or sebaceous gland tumors)Increased risk of certain skin cancersSensitivity to heat due to reduced sweating

Clinical phenotype terms (12)— hover any for plain English
Ectodermal dysplasiaHP:0000968Facial telangiectasiaHP:0007380Premature loss of primary teethHP:0006323Bird-like faciesHP:0000320Squamous cell carcinomaHP:0002860Ovarian neoplasmHP:0100615
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Schöpf-Schulz-Passarge syndrome.

View clinical trials →

No actively recruiting trials found for Schöpf-Schulz-Passarge syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the Schöpf-Schulz-Passarge syndrome community →

Specialists

12 foundView all specialists →
BT
Berkay Temel
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
&Y
İcim Kömürcügil Yigit
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
SA
Sena Yıldız Altay
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
KK
Kevser Rümeysa Altıntepe Karabacak
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
NK
Nermin Karaosmanoglu
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
JR
J-N Ren
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
RX
R-Z Xue
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
YC
Y-F Chen
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
ID
Iara Trocoli Drakensjö
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
EB
Erik Björck
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
MB
Maria Bradley
Specialist
1 Schöpf-Schulz-Passarge syndrome publication
MH
Mari-Anne Hedblad
Specialist
1 Schöpf-Schulz-Passarge syndrome 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 Schöpf-Schulz-Passarge syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Schöpf-Schulz-Passarge syndrome

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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.Which specialists should be part of my care team, and how often should I see each one?,How often should I have skin checks, and what signs of skin cancer should I watch for?,What are my options for replacing missing teeth, and when should we start dental treatment?,Should my family members be tested for the WNT10A gene change?,How can I safely manage heat and exercise given my reduced ability to sweat?,Are there any clinical trials or research studies I could participate in?,What support resources or patient communities are available for people with ectodermal dysplasias?

Common questions about Schöpf-Schulz-Passarge syndrome

What is Schöpf-Schulz-Passarge syndrome?

Schöpf-Schulz-Passarge syndrome (SSPS) is a very rare inherited condition that mainly affects the skin, teeth, nails, sweat glands, and eyes. It belongs to a group of conditions called ectodermal dysplasias, which means the parts of the body that develop from a layer of tissue called the ectoderm do not form or work properly. The syndrome is also sometimes referred to by the abbreviation SSPS. The most recognizable feature of SSPS is the development of small fluid-filled cysts on the eyelids, called eyelid cysts or apocrine hidrocystomas. People with this condition often also have missing or

How is Schöpf-Schulz-Passarge syndrome inherited?

Schöpf-Schulz-Passarge syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Schöpf-Schulz-Passarge syndrome?

12 specialists and care centers treating Schöpf-Schulz-Passarge syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.