Publications by authors named "Stéphanie Christen-Zäch"

5 Publications

  • Page 1 of 1

Bilateral Alopecia in a Six-year-old Boy: A Quiz.

Acta Derm Venereol 2020 Apr 6;100(8):adv00104. Epub 2020 Apr 6.

Pediatric dermatology unit, Departments of dermatology and venerology and pediatrics, University Hospital Lausanne, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.2340/00015555-3364DOI Listing
April 2020

Chemical depilatories in ancient Rome: the torpedo formula.

JAMA Dermatol 2014 Nov;150(11):1196

Division of Pediatric Dermatology, University Hospital Lausanne, Lausanne, Switzerland2Department of Dermatology and Venereology, University Hospital Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1001/jamadermatol.2014.2122DOI Listing
November 2014

Infliximab for the treatment of disseminated pyoderma gangrenosum associated with ulcerative colitis. Case report and literature review.

Dermatology 2007 ;215(3):245-51

Division of Gastroenterology and Hepatology, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

We report the case of a 19-year-old woman who developed an acute disseminated pyoderma gangrenosum (PG) during a severe flare of ulcerative colitis (UC). She was successfully treated with a 3-dose regimen of the anti-tumor-necrosis-factor-alpha antibody infliximab. The literature on the effectiveness of this biological agent was reviewed, including 8 other cases of UC-associated PG and 77 cases of Crohn's-disease-associated PG. This case report and the review of the literature demonstrate that infliximab can be successfully used to treat patients with PG associated with inflammatory bowel diseases.
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http://dx.doi.org/10.1159/000106584DOI Listing
September 2007

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

Hum Mutat 2005 Sep;26(3):235-48

Charité, Franz Volhard Clinic, HELIOS Klinikum, Humboldt University, Berlin, Germany.

Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder that affects the elastic tissue in the skin, eye, and cardiovascular system. Mutations in the ABCC6 gene cause PXE. We performed a mutation screen in ABCC6 using haplotype analysis in conjunction with direct sequencing to achieve a mutation detection rate of 97%. This screen consisted of 170 PXE chromosomes in 81 families, and detected 59 distinct mutations (32 missense, eight nonsense, and six likely splice-site point mutations; one small insertion; and seven small and five large deletions). Forty-three of these mutations are novel variants, which increases the total number of PXE mutations to 121. While most mutations are rare, three nonsense mutations, a splice donor site mutation, and the large deletion comprising exons 23-29 (c.2996_4208del) were identified as relatively frequent PXE mutations at 26%, 5%, 3.5%, 3%, and 11%, respectively. Chromosomal haplotyping with two proximal and two distal polymorphic markers flanking ABCC6 demonstrated that most chromosomes that carry these relatively frequent PXE mutations have related haplotypes specific for these mutations, which suggests that these chromosomes originate from single founder mutations. The types of mutations found support loss-of-function as the molecular mechanism for the PXE phenotype. In 76 of the 81 families, the affected individuals were either homozygous for the same mutation or compound heterozygous for two mutations. In the remaining five families with one uncovered mutation, affected showed allelic compound heterozygosity for the cosegregating PXE haplotype. This demonstrates pseudo-dominance as the relevant inheritance mechanism, since disease transmission to the next generation always requires one mutant allelic variant from each parent. In contrast to other previous clinical and molecular claims, our results show evidence only for recessive PXE. This has profound consequences for the genetic counseling of families with PXE.
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http://dx.doi.org/10.1002/humu.20206DOI Listing
September 2005