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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 historical figure, Julia Pastrana and her infant son, likely had this syndrome. The underlying cause of gingival fibromatosis with hypertrichosis is unknown, but speculated to involve a heritable contiguous gene deletion. 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. 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. Improved understanding regarding the cause, will likely aid in distinguishing these syndromes in the future.
Source: GARD Last updated on 05-01-20
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