Living with Epidermolysis bullosa simplex 7, with nephropathy and deafness
A rare genetic condition with kidney disease, hearing loss, and blisters on the shins, starting in the teen years.
Understanding Epidermolysis bullosa simplex 7, with nephropathy and deafness
GARD describes inherited kidney inflammation that can lead to nephrotic syndrome and kidney failure, along with hearing loss from the inner ear. Skin blisters on the shins are followed by thinning of the skin. Other features include blocked tear ducts and nail and tooth changes. It begins in the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney inflammation (nephritis)
- Hearing loss from the inner ear
- Blisters on the shins
- Advanced chronic kidney disease
- Narrowed tear ducts
- Poorly formed nails
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 ear, nose, and throat specialists, genetic specialists, kidney specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CD151 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: DEBRA of America
- 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 CD151 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: ebs with nephropathy; epidermolysis bullosa simplex with nephropathy; nephropathy with pretibial epidermolysis bullosa and deafness; nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome; nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome; nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex 7, with nephropathy and deafness · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · 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 7, with nephropathy and deafness.
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