Living with Trichodermodysplasia-dental alterations syndrome
A very rare genetic condition with thin, brittle hair, late or missing teeth, and some skin and nail differences.
Understanding Trichodermodysplasia-dental alterations syndrome
People have sparse, thin, brittle scalp hair and sparse eyebrows, eyelashes, and body hair. Teeth come in late, and some teeth are missing. Mild thickening of the palms and soles, café-au-lait spots on the back, and mild nail changes are also seen. It is noticed at birth. GARD says there have been no further descriptions in the medical literature since 1986.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse, thin, brittle scalp hair
- Sparse or absent eyebrows and eyelashes
- Missing teeth (tooth agenesis)
- Late tooth eruption
- Thick skin on the palms and soles
- Scoliosis
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 (variants) cause this condition, but it doesn't name a specific gene.
Also known as: pinheiro-freire maia-miranda syndrome; pinheiro, freire maia, miranda syndrome; trichodermodysplasia and dental alterations syndrome
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 Trichodermodysplasia-dental alterations syndrome.
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