Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)

Abstract

Baumeister FAM, 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: 44: 121–128. © Munksgaard, 1993 Congenital hypertrichosis universalis is a rare autosomal dominant disease. We report the further development of a Greek girl, now aged 3 years, the first case associated with a balanced structural chromosomal aberration. She was described as a neonate by Sigalas et al. (1990). Her persistent generalized hypertrichosis is most excessive on the face, ears and shoulders. Her fine silky hair is of the vellus, not the lanugo type. The syndrome features are characterized, referring to nine further published case reports. It is distinguished from other types of congenital hypertrichoses, which have been described in the literature under different synonyms. To avoid confusion in the terminology, we propose to name this type of hypertrichosis Ambras syndrome in reference to the first documented family with congenital hypertrichosis universalis in the 16th century.

Neurosurgery and a small section from the Greek myth: the God Pan and Syrinx

“…One of the other congenital forms of hypertrichosis is congenital hypertrichosis lanuginosa; it is a rarely seen autosomal dominant disease and is characterized by excess of lanugo hair covering the whole body except palms, soles, and mucous membranes [20]. It is also known as "Ambras syndrome" because paintings of the first recorded case and his family reside in a castle in Ambras, Austria [1]. Lumbosacral hypertrichosis may be occurring as a "faun tail" or a "silky down", a wide, often triangularshaped patch of hair measuring up to several inches in length and found in the lumbosacral region; it is frequently a sign for an underlying spinal dysraphism [6,7].…”

Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2)

“…The genetic basis of hypertrichosis is largely unknown, and the need for studying more patients with hypertrichosis is essential to better characterize the molecular basis of the disease. To date, only 13 cases with AS have been reported among which a few involved chromosome 8 aberrations [1]. One case with chromosome 8 aberrations had a pericentric inversion of chromosome 8 with a karyotype of 46,XX,inv(8)(p11.2q22) [1], and breakpoints refined to 8p11.2 and 8q23.1 [2].…”

“…Ambras syndrome (AS)(OMIM 145701), described initially by Baumeister et al in 1993, is a distinct form of congenital hypertrichosis characterized by excessive hair growth over the whole body and face, and is associated with facial and dental anomalies [1]. Regions which are normally devoid of hair follicles such as the palms, soles, mucous membranes, dorsal terminal phalanges, labia minora, prepuse, and glans penis are spared.…”

Copy Number Variations on Chromosome 4q26–27 Are Associated with Cantu Syndrome

“…Therefore, several alternate genetic mechanisms, including epigenetic dysregulation, miRNA dysregulation, chromosomal translocations with position effects and copy number variations (CNVs) may play a role in the pathogenesis of hypertrichosis. Over the past two decades, there have been several reports of hypertrichosis in association with chromosomal rearrangements [3,4,5,6,7,8]. Moreover, we have previously described several patients with Ambras syndrome, secondary to position effects on TRPS1 gene [7] and recently, it has been reported that CNVs on chromosome 17 are associated with isolated hypertrichosis and hypertrichosis with gingival fibromatoses [8].…”