Ambras Syndrome

 Congenital Hypertrichosis & Congenital Hypertrichosis Lanuginosa (CHL)

Syn. Congenital Hypertrichosis Universalis, Hypertrichosis Universalis, Hypertrichosis Lanuginosa,
and Hypertrichosis Lanuginosa Universalis.

Congenital hypertrichosis is a general term for any excessive hair growth visible on a child at birth. This may involve the entire body having a covering of fine long hair, or be restricted to specific areas. This very rare X-linked dominant condition has been responsible for the descriptions ‘dog faced’ and ‘werewolf’. Figuera et.al. (1995) have been mapping the gene responsible which is on the long arm of the X chromosome between Xq24-Xq27.

Causes:
A secondary symptom of various syndromes associated with a genetic inheritance.

One notable Case History:
In 1648, Dr Ulysses Aldrovandus documented several members of the family of Petrus Gonsalvus a native of Tenerife who had excessive body hair (Hypertrichosis universalis) from birth. Gonsalvus married in the Netherlands, and fathered several children including two daughters a son and a grandchild with Congenital Hypertrichosis. The family was a popular object of medical research. Drs Felix Plater & Aldrovandus described them. The family was dubbed ‘The Family of Ambras’ after a castle near Innsbruck in which their portraits are still exhibited. Details of their lives were recorded in the 1582/83 sketchbook of Georg Hoefnagel in the Österreichische Nationalbibliothek (Austrian National Library) in Vienna.

Other cases documented since have included:
In 1993, Dr Baumeister described nine of his patients with a form of hypertrichosis with a defining clinical presentation.To this he gave the name ‘Ambras Syndrome’.

In one of the patients, a specific genetic abnormality was found on Chromosome 8
In 1998, Dr Balducci described a case of CHL (congenital hypertrichosis lanuginosa) involving a different genetic defect on chromosome 8

An X-linked syndrome of hypertrichosis associated with gingival hyperplasia has been described.

The following practitioners have also reported possible variants of this disorder viz. (Beighton, 1970; Brandt, 1897; Broster, 1950; Cantu, 1982; Demikova, 1986; Felgenhauer, 1969; Freire-Maia, 1976; Gardner, 1964; Jalili, 1989; Janssen, 1945; Joest, 1984; Judge, 1991; Kint, 1985; Li, 1986; McKusick, 1992; Nowakowski, 1977; Partridge, 1987; Suskind, 1971).

Fewer than 40 cases of CHL and Ambras Syndrome have been documented worldwide (Danforth, 1925; Felgenhauer, 1969; Rook, 1986; Baumeister, 1993). There is no associated mortality.

©  Prof. B Stevens FTTS

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