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Disease Profile

Ectodermal dysplasia skin fragility syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q81.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Mcgrath syndrome; Ectodermal dysplasia skin fragility syndrome; Epidermolysis bullosa simplex due to plakophilin deficiency;

Categories

Congenital and Genetic Diseases; Eye diseases; Skin Diseases

Summary

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.

Symptoms

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.

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

Diagnosis

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.

    Organizations

    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

      Learn more

      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.