Gingival fibromatosis-hypertrichosis syndromeL68.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Extreme hirsutism with gingival fibromatosis; Gingival fibromatosis with hypertrichosis; Hereditary gingival fibromatosis with hypertrichosis; Hypertrichosis terminalis, generalized, with gingival hyperplasia; OMIM: 135400

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DefinitionThis section has been translated automatically.

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.

Clinical featuresThis section has been translated automatically.

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

Differential diagnosisThis section has been translated automatically.

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.

Note(s)This section has been translated automatically.

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":-)

LiteratureThis section has been translated automatically.

  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.

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Last updated on: 29.10.2020