Living with Trichoodontoonychial dysplasia
A very rare genetic condition affecting hair, teeth, nails, skull bone, and skin.
Understanding Trichoodontoonychial dysplasia
People have very sparse hair, tooth enamel that is poorly formed with later tooth loss, changes in the nails, and a bone gap in the front-side area of the skull. Skin features can include moles, small bumps, freckles, thick palms and soles, and extra nipples. It is noticed in the newborn period or infancy. GARD says there have been no further descriptions in the medical literature since 1983.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- Very sparse hair and hair loss at the top sides of the head
- Poorly formed tooth enamel
- Nail changes (onychodystrophy)
- Thin bone in the skull
- Thick skin on the palms and soles
- Extra nipples
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 this condition is autosomal recessive, so a child inherits a changed copy of a gene from each parent. It doesn't name a specific gene.
Also known as: trichoodontoonychial dysplasia with bone deficiency in frontoparietal region
Patient organizations
- 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 Trichoodontoonychial dysplasia.
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