Ambras syndrome: report on two affected siblings with no prior family history

Belengeanu,; Rozsnyai, Kinga; Gug, Cristina; Bănăţeanu, M; Farcas, Simona; Belengeanu, Alina

doi:10.1097/00019605-200410000-00014

Cited by 10 publications

(8 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition to hypertrichosis, patients display abnormal facial features such as a triangular, coarse face, a bulbous tip of the nose, a broad intercanthal distance and long palpebral fissures (1). Additional facial abnormalities include small and anteverted nares, thick nasal wings, a long, prominent philtrum with a deep groove, a thin vermilion border, a trapezoid mouth and telecanthus, as well as bone abnormalities, such as multiple exostoses, postaxial rudimentary hexadactyly and a low insertion of the first metacarpal (1)(2)(3)(4).…”

Section: Introductionmentioning

confidence: 99%

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

Fantauzzo¹,

Tadin‐Strapps²,

You³

et al. 2008

Human Molecular Genetics

View full text Add to dashboard Cite

Ambras syndrome (AS) is a rare form of congenital hypertrichosis with excessive hair on the shoulders, face and ears. Cytogenetic studies have previously implicated an association with rearrangements of chromosome 8. Here we define an 11.5 Mb candidate interval for AS on chromosome 8q based on cytogenetic breakpoints in three patients. TRPS1, a gene within this interval, was deleted in a patient with an 8q23 chromosomal rearrangement, while its expression was significantly downregulated in another patient with an inversion breakpoint 7.3 Mb downstream of TRPS1. Here, we describe the first potential long-range position effect on the expression of TRPS1. To gain insight into the mechanisms by which Trps1 affects the hair follicle, we performed a detailed analysis of the hair abnormalities in Koa mice, a mouse model of hypertrichosis. We found that the proximal breakpoint of the Koa inversion is located 791 kb upstream of Trps1. Quantitative real-time polymerase chain reaction, in situ hybridization and immunofluorescence analysis revealed that Trps1 expression levels are reduced in Koa mutant mice at the sites of pathology for the phenotype. We determined that the Koa inversion creates a new Sp1 binding site and translocates additional Sp1 binding sites within a highly conserved stretch spanning the proximal breakpoint, providing a potential mechanism for the position effect. Collectively, these results describe a position effect that downregulates TRPS1 expression as the probable cause of hypertrichosis in AS in humans and the Koa phenotype in mice.

show abstract

Section: Introductionmentioning

confidence: 99%

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

Fantauzzo¹,

Tadin‐Strapps²,

You³

et al. 2008

Human Molecular Genetics

View full text Add to dashboard Cite

show abstract

“…[ 9 ] Along with this, there is associated coarse facies, multiple exostosis, postaxial rudimentary hexadactyly, teeth abnormalities and a low insertion of the first metacarpal. [ 10 11 ] An AD pattern of inheritance has been proposed for AS. A position defect in the TRPS1 gene within the 8q22–8q24 chromosomal region has been found to have a causative role in AS.…”

Section: Discussionmentioning

confidence: 99%

Congenital generalized hypertrichosis, gingival hyperplasia, a coarse facies with constriction bands: A rare association

et al. 2015

View full text Add to dashboard Cite

Congenital generalized hypertrichosis terminalis is a rare primary hypertrichotic condition, of unknown etiology presenting in the pediatric population. Though benign in nature, there is considerable psychosocial trauma attached to this, owing to the cosmetic disfigurement it produces. The association of gingival fibromatosis and a coarse facies could further worsen the cosmesis. Thus, a multidisciplinary approach involving a psychologist, a dentist apart from the dermatologist would be mandatory. We present this rare syndrome with the purpose of getting a better insight regarding the inheritance, the clinical features and the best available treatment modalities, especially the modern and novel techniques of hair removal that could be utilized to manage such individuals.

show abstract

“…The case described by Baumeister can be reclassified as belonging to this group, based on our follow-up observation. Other possible cases include historical reports on Barbara Urselerin from Augsburg, Germany, Stephan Bibrowski from Poland (better known as "Lionel the Lion-faced Man") and some recent case reports [3,9], as well as media reports (a girl named Supatra Sasuphan from Thailand and a boy named Prithviraj Patil from India). The three families recently described by Sun et al from China can also be pheno-typically ascribed to this group, because, except for a somewhat coarse facial contour, the affected individuals had no extracutaneous anomalies such as dental anomalies, gingival overgrowth or mental deficiency [10].…”

Section: Group 1: Nonsyndromic Sporadic Cghtmentioning

confidence: 99%

Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term “Ambras syndrome”

Chen

Ring

Happle

2015

European Journal of Dermatology

View full text Add to dashboard Cite

Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome" Congenital generalized hypertrichosis terminalis (CGHT) is a heterogenous group of diseases with continuing excessive growth of terminal hair. "Ambras syndrome" was first coined by Baumeister in 1993 to describe a case of nonsyndromic CGHT which was erroneously analogized to the portrait paintings of Petrus Gonzales and his children, exhibited in Ambras Castle near Innsbruck, Austria. This family probably, a syndromic type with abnormal dentition, inherited as an autosomal dominant trait. CGHT associated with gingival hyperplasia is probably a particular entity typified by the historical cases of Julia Pastrana and her son. An X-linked type of CGHT has likewise been categorized as "Ambras syndrome". Moreover, some reports have mistakenly classified "Ambras syndrome" as an example of hypertrichosis lanuginosa. Potential gene loci identified so far may include 8q22, 17q24.2-q24.3 and Xq24-q27.1. The designation "Ambras syndrome" has thus been applied to various types of congenital hypertrichosis that differ to such degree that the name "Ambras" has no specific meaning, neither in the past nor in the future. Hence, this misleading term should now be jettisoned.

show abstract

Ambras syndrome: report on two affected siblings with no prior family history

Cited by 10 publications

References 6 publications

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

Congenital generalized hypertrichosis, gingival hyperplasia, a coarse facies with constriction bands: A rare association

Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term “Ambras syndrome”

Contact Info

Product

Resources

About