Living with Gingival fibromatosis-hypertrichosis syndrome
A genetic condition with major overgrowth of hair and gums, present from birth or starting in later childhood.
Understanding Gingival fibromatosis-hypertrichosis syndrome
Signs may be present from birth or begin in later childhood to adolescence, and other features vary. It can be inherited from an affected parent or appear for the first time in a person because of a new genetic change. It overlaps with other gum-overgrowth syndromes, such as Laband syndrome, juvenile hyaline fibromatosis, and Jones syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overgrown gums (gingival fibromatosis)
- Excess hair over the body (hirsutism)
- Delayed tooth eruption
- Coarse facial features
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.
- 3Consider genetic testing
Changes in ABCA5 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
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 the underlying cause is unknown, but may involve a heritable deletion of genes. It can be inherited in an autosomal dominant way, which means one changed copy of a gene can be enough. The ABCA5 gene is listed.
Also known as: cght; congenital generalised hypertrichosis terminalis; congenital generalized hypertrichosis terminalis; hirsutism-congenital gingival hyperplasia syndrome; hypertrichosis with acromegaloid facial features; hypertrichosis with or without gingival hyperplasia
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 Gingival fibromatosis-hypertrichosis syndrome.
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