Living with Recessive dystrophic epidermolysis bullosa-generalized other
A rare genetic skin condition with blisters on the skin and mucous membranes, without severe deformities.
Understanding Recessive dystrophic epidermolysis bullosa-generalized other
It is not linked to severe deformities. It starts in the newborn period. People may have fragile skin, scarring, feeding trouble, and slow growth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Widespread skin blisters
- Fragile skin and wounds that heal slowly
- Scarring and uneven skin color
- Narrowing of the esophagus (esophageal stricture)
- Feeding difficulties and slow growth
- Anemia and dental cavities
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 eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in COL7A1 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
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); 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
This condition is caused by changes in the COL7A1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; autosomal recessive dystrophic epidermolysis bullosa, generalised other; autosomal recessive dystrophic epidermolysis bullosa, generalized other; autosomal recessive dystrophic epidermolysis bullosa, non-hallopeau-siemens type; autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; generalised mitis rdeb
Patient organizations
- DEBRA of AmericaRecessive dystrophic epidermolysis bullosa-generalized other · United States
- Epidermolysis Bullosa Medical Research FoundationRecessive dystrophic epidermolysis bullosa-generalized other · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Recessive dystrophic epidermolysis bullosa-generalized other.
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