What are the other Names for this Condition? (Also known as/Synonyms)

• Extreme Hirsutism with Gingival Fibromatosis
• Generalized Hypertrichosis Terminalis with Gingival Hyperplasia
• Hereditary Gingival Fibromatosis with Hypertrichosis

What is Gingival Fibromatosis with Hypertrichosis? (Definition/Background Information)

• Gingival Fibromatosis with Hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features. Signs and symptoms may be present from birth or begin in later childhood to adolescence
• The underlying cause of Gingival Fibromatosis with Hypertrichosis is unknown, but speculated to involve a heritable contiguous gene deletion
• The condition can be inherited from an affected parent or occur for the first time in a family due to a new (spontaneous) genetic change in the affected person. An autosomal dominant pattern of inheritance has been demonstrated in individual families
• The signs and symptoms of Gingival Fibromatosis with Hypertrichosis overlap with a number of other gum overgrowth syndromes, such as Laband syndrome, juvenile hyaline fibromatosis and Jones syndrome

(Source: Gingival Fibromatosis with Hypertrichosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Gingival Fibromatosis with Hypertrichosis? (Age and Sex Distribution)

• Gingival Fibromatosis with Hypertrichosis is a rare congenital disorder, with no data available on its prevalence
• The presentation of gingival symptoms may occur at birth or infancy. The excess growth of hair may be present at birth, or develop later during childhood years or adolescence
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Gingival Fibromatosis with Hypertrichosis? (Predisposing Factors)

• A positive family history may be an important risk factor, since Gingival Fibromatosis with Hypertrichosis can be inherited
• Currently, no other risk factors have been clearly identified for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Gingival Fibromatosis with Hypertrichosis? (Etiology)

• Presently, the gene mutation that causes Gingival Fibromatosis with Hypertrichosis is not known
• The condition can develop sporadically, or be inherited in an autosomal dominant manner

Autosomal dominant mode of inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Gingival Fibromatosis with Hypertrichosis?

The signs and symptoms of Gingival Fibromatosis with Hypertrichosis may include:

• Congenital generalized hypertrichosis
• Hirsutism
• Intellectual disability may be present

Very frequently present symptoms in 80-99% of the cases:

• Generalized hirsutism
• Gingival fibromatosis

Frequently present symptoms in 30-79% of the cases:

• Coarse facial features
• Delayed eruption of teeth
• EEG abnormality
• Gingival overgrowth

Occasionally present symptoms in 5-29% of the cases:

• Ataxia
• Bulbous nose
• Cognitive impairment
• Downslanted palpebral fissures
• Epicanthus
• Seizures
• Synophrys
• Thick eyebrow
• Thick nasal alae
• Wide nasal base

(Source: Gingival Fibromatosis with Hypertrichosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Gingival Fibromatosis with Hypertrichosis Diagnosed?

Gingival Fibromatosis with Hypertrichosis is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Differential diagnosis to rule out conditions with overlapping signs and symptoms, including Laband syndrome, juvenile hyaline fibromatosis and Jones syndrome

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Gingival Fibromatosis with Hypertrichosis?

The complications of Gingival Fibromatosis with Hypertrichosis may include:

• Inability to chew food thoroughly, due to delayed development of teeth or tooth decay
• Risk of falls and injury, if seizures are present
• Mental retardation

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Gingival Fibromatosis with Hypertrichosis Treated?

There is no cure for Gingival Fibromatosis with Hypertrichosis, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Gingival Fibromatosis with Hypertrichosis be Prevented?

Currently, Gingival Fibromatosis with Hypertrichosis may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Gingival Fibromatosis with Hypertrichosis? (Outcomes/Resolutions)

• The prognosis of Gingival Fibromatosis with Hypertrichosis is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Gingival Fibromatosis with Hypertrichosis:

• Gingival Fibromatosis with Hypertrichosis is also known as Gingival Fibromatosis with Hypertrichosis Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/