The Experts below are selected from a list of 1848 Experts worldwide ranked by ideXlab platform
Rudolf Happle - One of the best experts on this subject based on the ideXlab platform.
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Congenital generalized Hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term “Ambras syndrome”
European Journal of Dermatology, 2015Co-Authors: Wenchieh Chen, Johannes Ring, Rudolf HappleAbstract: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.
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nevoid Hypertrichosis and hypomelanosis
European Journal of Dermatology, 2002Co-Authors: Olivia Lopezbarrantes, Antonio Torrelo, Imelda G Mediero, Antonio Zambrano, Rudolf HappleAbstract:A girl with multiple lesions of nevoid Hypertrichosis and linear hypopigmentation following Blaschko's lines is presented. She had no extracutaneous anomalies. We hypothesize that this unusual coexistence of skin lesions may represent a further example of "twin spotting".
Norman C. Nevin - One of the best experts on this subject based on the ideXlab platform.
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Congenital Hypertrichosis, cardiomegaly and mild osteochondrodysplasia
American journal of medical genetics, 1996Co-Authors: Norman C. Nevin, H. C. Mulholland, Paul S. ThomasAbstract:We report on a boy with congenital Hypertrichosis, cardiomegaly and a mild osteochondrodysplasia, a rare syndrome of which there is only one previous report [Cantu et al., Hum Genet 60:36–41, 1982]. In all, five patients now are known to have this syndrome (2 females, 3 males). As the syndrome has been described in males and females and also in two sibs, inheritance is probably autosomal recessive. © 1996 Wiley-Liss, Inc.
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An autosomal dominant syndrome of acromegaloid facial appearance and generalised Hypertrichosis terminalis.
Journal of medical genetics, 1996Co-Authors: Alan D. Irvine, O.m. Dolan, D.r. Hadden, Fiona Stewart, E. A. Bingham, Norman C. NevinAbstract:We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised Hypertrichosis terminalis segregates through three generations. Congenital Hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.
Angela M Christiano - One of the best experts on this subject based on the ideXlab platform.
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trps1 and its target gene sox9 regulate epithelial proliferation in the developing hair follicle and are associated with Hypertrichosis
PLOS Genetics, 2012Co-Authors: Katherine A Fantauzzo, Mazen Kurban, Brynn Levy, Angela M ChristianoAbstract:Hereditary hypertrichoses are a group of hair overgrowth syndromes that are extremely rare in humans. We have previously demonstrated that a position effect on TRPS1 is associated with Hypertrichosis in humans and mice. To gain insight into the functional role of Trps1, we analyzed the late morphogenesis vibrissae phenotype of Trps1Δgt mutant mice, which is characterized by follicle degeneration after peg downgrowth has been initiated. We found that Trps1 directly represses expression of the hair follicle stem cell regulator Sox9 to control proliferation of the follicle epithelium. Furthermore, we identified a copy number variation upstream of SOX9 in a family with Hypertrichosis that significantly decreases expression of the gene in the hair follicle, providing new insights into the long-range regulation of SOX9. Our findings uncover a novel transcriptional hierarchy that regulates epithelial proliferation in the developing hair follicle and contributes to the pathology of Hypertrichosis.
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congenital universal Hypertrichosis with deafness and dental anomalies inherited as an x linked trait
Clinical Genetics, 2003Co-Authors: Marija Tadinstrapps, Julio Cesar Salasalanis, L Moreno, Dorothy Warburton, Amalia Martinezmir, Angela M ChristianoAbstract:We report a large Mexican kindred with a variant form of congenital universal Hypertrichosis that is inherited in an apparent X-linked recessive manner. In addition to the generalized Hypertrichosis, the affected individuals have dental malformations and deafness. Males are more severely affected than females who exhibit only mild Hypertrichosis, but not deafness or dental anomalies. Haplotype analysis in this pedigree revealed linkage to a 13-cM region on chromosome Xq24-q27.1 between markers GATA198A10 and DXS8106. Localization of the gene underlying this form of Hypertrichosis is the initial step in identifying genes on the X chromosome that are involved in the control of hair growth and development.
Wenchieh Chen - One of the best experts on this subject based on the ideXlab platform.
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Congenital generalized Hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term “Ambras syndrome”
European Journal of Dermatology, 2015Co-Authors: Wenchieh Chen, Johannes Ring, Rudolf HappleAbstract: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.
Alan D. Irvine - One of the best experts on this subject based on the ideXlab platform.
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An autosomal dominant syndrome of acromegaloid facial appearance and generalised Hypertrichosis terminalis.
Journal of medical genetics, 1996Co-Authors: Alan D. Irvine, O.m. Dolan, D.r. Hadden, Fiona Stewart, E. A. Bingham, Norman C. NevinAbstract:We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised Hypertrichosis terminalis segregates through three generations. Congenital Hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.