Hereditary gingival fibromatosis

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ORPHA:2024OMIM:135300K06.1
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Overview

Hereditary gingival fibromatosis (HGF), also known as hereditary gingival hyperplasia or idiopathic gingival fibromatosis, is a rare genetic condition characterized by a slow, progressive, benign overgrowth of the gingiva (gum tissue). The enlarged gingival tissue is typically firm, non-hemorrhagic, and pink in color, with a normal appearance aside from its increased size. The fibromatosis can be localized or generalized, affecting the gums of both the upper and lower jaws. In severe cases, the overgrown tissue can partially or completely cover the teeth, leading to difficulties with speech, lip closure, chewing, and aesthetic concerns. The condition may also delay tooth eruption in children or cause displacement of teeth, contributing to malocclusion. The gingival overgrowth usually becomes apparent during childhood, often coinciding with the eruption of the permanent teeth, though it can occasionally present with the eruption of the primary (deciduous) teeth. HGF can occur as an isolated condition or as part of a syndrome associated with other features such as hypertrichosis, intellectual disability, epilepsy, or hearing loss. The most well-characterized genetic cause of isolated HGF involves mutations in the SOS1 gene (HGF type 1, mapped to chromosome 2p21), though genetic heterogeneity exists with other loci implicated. There is currently no cure for hereditary gingival fibromatosis. The primary treatment is surgical excision of the excess gingival tissue through a procedure called gingivectomy. However, recurrence of the overgrowth after surgery is common, and repeated surgical interventions may be necessary throughout the patient's life. Good oral hygiene is essential to minimize secondary inflammation. Regular dental and periodontal follow-up is recommended to monitor for recurrence and to manage any associated dental complications.

Also known as:

Clinical phenotype terms— hover any for plain English:

Gingival fibromatosisHP:0000169
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Hereditary gingival fibromatosis.

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No actively recruiting trials found for Hereditary gingival fibromatosis at this time.

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No specialists are currently listed for Hereditary gingival fibromatosis.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Hereditary gingival fibromatosis.

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Community

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Common questions about Hereditary gingival fibromatosis

What is Hereditary gingival fibromatosis?

Hereditary gingival fibromatosis (HGF), also known as hereditary gingival hyperplasia or idiopathic gingival fibromatosis, is a rare genetic condition characterized by a slow, progressive, benign overgrowth of the gingiva (gum tissue). The enlarged gingival tissue is typically firm, non-hemorrhagic, and pink in color, with a normal appearance aside from its increased size. The fibromatosis can be localized or generalized, affecting the gums of both the upper and lower jaws. In severe cases, the overgrown tissue can partially or completely cover the teeth, leading to difficulties with speech, l

How is Hereditary gingival fibromatosis inherited?

Hereditary gingival fibromatosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Hereditary gingival fibromatosis typically begin?

Typical onset of Hereditary gingival fibromatosis is childhood. Age of onset can vary across affected individuals.