Thursday, January 1

Ambras syndrome

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What is Ambras syndrome?
Ambras syndrome (AS) is a type of congenital generalized hypertrichosis (CGH).
Ambras disorder is an extremely rare type of excessive growth of hair. The condition is androgen-independent. Ambras syndrome is characterized by the extensive presence of hair on the body, including face, ears and shoulders. In Ambras hypertrichosis the type of hair involved is vellus, whereas in congenital hypertrichosis lanuginosa, lanugo hair is involved and ears are usually spared.

The ambras disorder is usually associated with several deformities such as dental anomalies, enlarged nose tip, triangular coarse face. This type of congenital hypertrichosis was first described by Baumeister et al (1993) and the name Ambras syndrome was proposed by them. They reviewed nine other cases of CGH from literature and argued for the naming of the particular type of CGH as Ambras syndrome.

History of Ambras syndrome

The ambras disorder was well-documented as the 'family of Ambras'. This was documented by Altrovandus in his book Monstrorum Historia cum Paralipomenis historiae omnium animalium published in 1642. He had mentioned of two daughters, a son, and a grandchild in Gonzales family having hypertrichosis and named them as Ambras family.
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Petrus Gonsalvus (c.1537–1618) was born in Tenerife, the largest and most populous island of the seven Canary Islands. The family of Ambras, Petrus Gonsalvus, three of his daughters Maddalena, Francesca and Antonietta and two of his sons Enrico and Orazio had generalized . Petrus Gonzales moved to France and resided at the court of Henri II of France. He was sent to the court of Margaret of Parma, regent of the Netherlands and later he moved into the court of Alexander Farnese, Duke of Parma.

The Chamber of Art and Curiosities located in Ambras Castle near Innsbruck in Austria, has a painting of Petrus Gonsalvus. Presently, the painting is exhibited in the Kunsthistorisches museum in Vienna. Baumeister et al coined the term Ambras syndrome for CGH with symptoms similar to Gonzales family.

Causes of Ambras syndrome

As reported by Baumeister et al, a genetic alteration is believed to play a central role. A pericentric inversion (8)(q12q22) is cited as the cause. Balducci et al (1998) reported a similar case with paracentric inversion, at (8)(q12q22). Baumeister et al disputed the claim of Balducci et al and suggested that the condition could be hypertrichosis universalis and not AS. The typical symptom of the hypertrichosis disorder,like the presence of dense hair on the nose, preauricular regions, external ears and external auditory canal were absent. Fantauzzo et al. (2008) reported that the positional change and the resultant downregulation of TRPS1 expression as the possible cause of Ambras hypertrichosis.

Diagnosis

The AS patients have vellus hair hypertrichosis. The hair is silky. long, light-colored and is prominent on face, ears and shoulders. The trichosis uniformly covers the eyelids, nose, cheeks, ears and shoulder. There are no metabolic and endocrine defects and the hormonal levels are normal.

There no cure for this congenital disorder and frequent shaving of the face may relieve some of the miseries.
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Reference:
1.Trüeb RM. Causes and management of hypertrichosis. Am J Clin Dermatol. 2002;3(9):617-27.
2.Goel N, Rajaram S, Gupta B, Gupta K. Familial congenital generalized hypertrichosis. Indian J Dermatol Venereol Leprol 2013;79:849.
3.Baumeister FA, Egger J, Schildhauer MT, Stengel-Rutkowski S. Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22). Clin Genet. 1993 Sep;44(3):121-8.
4.Rashid M Rashid, Lucile E White. A hairy development in hypertrichosis: a brief review of Ambras syndrome. Dermatology Online Journal 13 (3): 8.
5.Tadin M, Braverman E, Cianfarani S, Sobrino AJ, Levy B, Christiano AM, Warburton D. Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet. 2001 Jul 22;102(1):100-4.
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