Living with Pilodental dysplasia-refractive errors syndrome
A very rare condition present from birth that affects hair, teeth and skin, and causes vision focusing problems.
Understanding Pilodental dysplasia-refractive errors syndrome
It affects the hair and teeth, including missing teeth, oddly shaped teeth, thin scalp hair and banded hair (pili annulati). Rough skin bumps on the trunk and limbs, and farsightedness (hyperopia) also occur. Astigmatism and darker skin on the nape have also been reported. It has not been described in the literature since 1985.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Missing or oddly shaped teeth
- Thin scalp hair
- Banded hair (pili annulati)
- Rough skin bumps on the trunk and limbs
- Farsightedness (hyperopia)
- Astigmatism
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, 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
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: 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 National Foundation for Ectodermal Dysplasias 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
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: euhidrotic ectodermal dysplasia; kopysc barczyk krol syndrome; kopysc-barczyk-krol syndrome; pilodental dysplasia, refractive errors syndrome; trichodental dysplasia with hyperopia
Patient organizations
- National Foundation for Ectodermal DysplasiasPilodental dysplasia-refractive errors syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pilodental dysplasia-refractive errors syndrome.
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