Gingival fibromatosis-hypertrichosis syndrome L68.8

Rare, autosomal-dominant disease (sporadic occurrence is also known), which is characterized by diffuse fibromatosis of the gingiva already at birth. Fibromatosis gingivae is associated with a generalized hypertrichosis, which develops at birth, in the first years of life or even later in puberty.

Hypertrichosis mainly affects the face, the upper limbs and the back.

The combination of gingival hyperplasia and congential hypertrichosis is also observed in the so-calledAmbras syndrome (Reddy Kundoor VK et al. 2016).

Furthermore, the gingival fibromatosis-hypertrichosis syndrome must be distinguished from similar symptom constellations as they occur in Laband syndrome, juvenile hyaline fibromatosis and Jones syndrome.

The historical figure, Julia Pastrana and her little son probably suffered from this syndrome. Julia Pastrana was an actress who performed in a freak show and became known as the "monkey woman":-)

1. Canún S et al (2003) Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. At J Med Genet A 116A: 278-283.
2. Poulopoulos A et al (2011) Current concepts on gingival fibromatosis-related syndromes.
   J Investig Clin Dent 2:156-161.
3. Reddy Kundoor VK et al (2016) Ambras Syndrome with Gingival Hyperplasia: A Rare Entity. Int J Trichology 8:81-83.