National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Ectodermal dysplasia skin fragility syndrome


Other Names:
Mcgrath syndrome; Ectodermal dysplasia - skin fragility syndrome; Epidermolysis bullosa simplex due to plakophilin deficiency; Mcgrath syndrome; Ectodermal dysplasia - skin fragility syndrome; Epidermolysis bullosa simplex due to plakophilin deficiency; Ectodermal dysplasia-skin fragility syndrome See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 158668

Definition
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

Epidemiology
Prevalence is unknown but 11 cases have been reported to date.

Clinical description
Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. Skin erosions and crusting are associated with dystrophic nails, hypotrichosis or alopecia with absent or sparse eyelashes and eyebrows, palmoplantar keratoderma with painful fissuring, chronic cheilitis with perioral cracking. Occasionally hair may be woolly rather than reduced. Other variable cutaneous findings and symptoms include follicular hyperkeratosis, perianal erythema and erosions, inflammatory scaly plaques in the flexures, and pruritus. Extracutaneous involvement is usually present, typically with growth retardation, and, in some cases, with recurrent infections, chronic diarrhea, tongue fissuring, and blepharitis.

Etiology
EBS-PD is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1.

Genetic counseling
Transmission is autosomal recessive.

Prognosis
The disease is frequently associated with significant morbidity, but life-expectancy does not seem to be affected.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2012

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal eyebrow morphology
Abnormality of the eyebrow
0000534
Abnormality of the nail 0001597
Absent eyelashes
Failure of development of eyelashes
0000561
Alopecia
Hair loss
0001596
Erythema 0010783
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Skin ulcer
Open skin sore
0200042
Skin vesicle 0200037
Sparse hair 0008070
30%-79% of people have these symptoms
Blepharitis
Inflammation of eyelids
0000498
Chronic diarrhea 0002028
Dry skin 0000958
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Furrowed tongue
Grooved tongue
0000221
Immunodeficiency
Decreased immune function
0002721
Pruritus
Itching
Itchy skin
Skin itching
[ more ] 		0000989
5%-29% of people have these symptoms
Woolly hair
Kinked hair
0002224
1%-4% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Anhidrosis
Lack of sweating
Sweating dysfunction
[ more ] 		0000970
Dystrophic fingernails
Poor fingernail formation
0008391
Fragile skin
Skin fragility
0001030
Palmoplantar hyperkeratosis
Thickening of the outer layer of the skin of the palms and soles
0000972
Scaling skin
flaking skin
peeling skin
scaly skin
[ more ] 		0040189
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Ectodermal dysplasia 0000968
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Ectodermal dysplasia skin fragility syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Ectodermal dysplasia skin fragility syndrome:
    United States Immunodeficiency Network (USIDENT) Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ectodermal dysplasia skin fragility syndrome. Click on the link to view a sample search on this topic.

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