Gingival fibromatosis with hypertrichosis

Definition:

Gingival fibromatosis with hypertrichosis is a rare autosomal recessive congenital generalized hypertrichosis terminalis. It is characterized by hair growth that is excessive for the body size and age of an individual and is independent of androgen stimulation. It has been reported that mutations in the cholesterol transporter gene ABCA5 are associated with this disease.

References:

[1]. Gina M DeStefano, et al. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet. 2014 May 15;10(5):e1004333. [Content Brief]

[2]. Sonia Canún, et al. Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. Am J Med Genet A. 2003 Jan 30;116A(3):278-83. [Content Brief]

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