Gingival fibromatosis with hypertrichosis

Gingival fibromatosis with hypertrichosis
Specialty	Dermatology

Alternate names

Hypertrichosis terminalis, generalized, with gingival hyperplasia; Extreme hirsutism with gingival fibromatosis; Hereditary gingival fibromatosis with hypertrichosis

Definition

Gingival fibromatosis with hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features.

Cause

The underlying cause of gingival fibromatosis with hypertrichosis is unknown, but speculated to involve a heritable contiguous gene deletion.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Gingival fibromatosis with hypertrichosis can be inhertied 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.

Onset

Signs and symptoms may be present from birth or begin in later childhood to adolescence.

Signs and symptoms

Symptoms may include: 80%-99% of people have these symptoms

• Generalized hirsutism(Excessive hairiness over body)
• Gingival fibromatosis

30%-79% of people have these symptoms

• Coarse facial features(Coarse facial appearance)
• Delayed eruption of teeth(Delayed eruption)
• EEG abnormality
• Gingival overgrowth(Gum enlargement)

5%-29% of people have these symptoms

• Ataxia
• Bulbous nose
• Cognitive impairment(Abnormality of cognition)
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Epicanthus(Eye folds)
• Seizure
• Synophrys(Monobrow)
• Thick eyebrow(Bushy eyebrows)
• Thick nasal alae
• Wide nasal base(Broad base of nose)

Diagnosis

Laboratory investigations included complete blood profile and biochemical and hormonal analyses, all of which were within physiological limits. Based on clinical and radiological findings, a provisional diagnosis of IGF with hypertrichosis was made.

Treatment

This condition is treated by removal of the hyperplastic tissue via surgical intervention. Following treatment, regular recall visits with reinforced oral hygiene measures proved to be effective in reducing its recurrence rate.

See also

• Cantú syndrome
• List of cutaneous conditions

References

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