Living with Epidermolysis bullosa simplex due to plakophilin deficiency
A rare inherited form of EB simplex with widespread skin erosions, sparse hair, and thick palms and soles.
Understanding Epidermolysis bullosa simplex due to plakophilin deficiency
It is seen in newborns and infants. Skin is fragile and scaly. Other features GARD lists include sparse hair, nail changes, thick palms and soles, and trouble sweating.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fragile, scaly skin
- Sparse hair
- Thickened palms and soles (keratoderma)
- Nail changes
- Decreased sweating (hypohidrosis)
- Poor weight gain (failure to thrive)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PKP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
DEBRA of America and National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: DEBRA of America, National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with DEBRA of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PKP1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: dsp-related ectodermal dysplasia/skin fragility syndrome; ectodermal dysplasia skin fragility syndrome; ectodermal dysplasia-skin fragility syndrome; ectodermal dysplasia/skin fragility syndrome; mcgrath syndrome; pkp1-related ectodermal dysplasia/skin fragility syndrome
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex due to plakophilin deficiency · United States
- Epidermolysis Bullosa Medical Research FoundationEpidermolysis bullosa simplex due to plakophilin deficiency · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Epidermolysis bullosa simplex due to plakophilin deficiency.
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