Living with Epidermolysis bullosa simplex with anodontia/hypodontia
A rare form of EB simplex with injury-triggered blisters plus hearing loss, hair loss, missing teeth, and nail changes.
Understanding Epidermolysis bullosa simplex with anodontia/hypodontia
It is seen in newborns and infants. Along with blisters after injury, GARD lists hearing impairment, hair loss, missing or fewer teeth (hypodontia), and nail changes. Pale skin patches (vitiligo-like) not related to blisters have also been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters
- Fewer teeth than usual (tooth agenesis)
- Tooth enamel problems
- Hair loss or sparse scalp hair
- Fingernail and toenail changes
- Nearsightedness (myopia)
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, gum, teeth and mouth specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); Gum, teeth and mouth specialists (odontologists); 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 genes cause this condition. GARD does not name the gene or how it is inherited.
Also known as: ebs with anodontia/hypodontia; epidermolysis bullosa simplex with hypodontia; gamborg-nielsen syndrome; kallin syndrome; kallin's syndrome
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex with anodontia/hypodontia · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
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