Publications by authors named "Stephanie Christen-Zaech"

21 Publications

  • Page 1 of 1

European Task Force on Atopic Dermatitis (ETFAD): position on vaccination of adult patients with atopic dermatitis against COVID-19 (SARS-CoV-2) being treated with systemic medication and biologics.

J Eur Acad Dermatol Venereol 2021 Feb 15. Epub 2021 Feb 15.

Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.

The coronavirus disease 2019 (COVID-19) pandemic is caused by rapid spread of different strains of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The severity of infection ranges from mild, or even asymptomatic, to very severe. Signs and symptoms include fatigue, fever, exanthemas, upper respiratory illness, loss of smell and taste, pneumonia, severe acute respiratory syndrome, and multi-organ failure. Risk factors for a severe or lethal course include age, male gender, obesity, diabetes, cardiovascular disease, and immune suppression .
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http://dx.doi.org/10.1111/jdv.17167DOI Listing
February 2021

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Clin Genet 2021 Feb 14. Epub 2021 Feb 14.

Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

Four individuals from two families presented with a multisystemic condition of suspected genetic origin that was diagnosed only after genome analysis. The main phenotypic features were immune system dysregulation (severe immunodeficiency with autoimmunity) and intellectual disability. The four individuals were found to be homozygous for a 4.4 Kb deletion removing exons 20-23 (NM_003291.4) of the TPP2 gene, predicting a frameshift with premature termination of the protein. The deletion was located on a shared chromosome 13 haplotype indicating a Swiss founder mutation. Tripeptidyl peptidase 2 (TPP2) is a protease involved in HLA/antigen complex processing and amino acid homeostasis. Biallelic variants in TPP2 have been described in 10 individuals with variable features including immune deficiency, autoimmune cytopenias, and intellectual disability or chronic sterile brain inflammation mimicking multiple sclerosis. Our observations further delineate this severe condition not yet included in the OMIM catalog. Timely recognition of TPP2 deficiency is crucial since (1) immune surveillance is needed and hematopoietic stem cell transplantation may be necessary, and (2) for provision of genetic counselling. Additionally, enzyme replacement therapy, as already established for TPP1 deficiency, might be an option in the future.
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http://dx.doi.org/10.1111/cge.13942DOI Listing
February 2021

Distal-type epitheloid sarcoma mimicking a wart in a child: A diagnosis not to be missed.

Pediatr Dermatol 2021 Jan 27;38(1):187-190. Epub 2020 Nov 27.

Pediatric Dermatology Unit, Departments of Dermatology & Venereology and Pediatrics, University Hospital Lausanne, University of Lausanne, Lausanne, Switzerland.

Epithelioid sarcoma is a rare soft-tissue tumor that occurs mainly in children and young adults. It typically presents as a subcutaneous or deep dermal mass in distal extremities. Due to its benign-appearing clinical presentation, infrequent occurrence, and histologic similarities with other pathologies, the diagnosis of epithelioid sarcoma in its early stages can be extremely difficult and can be easily confused with benign lesions such as warts or foreign body granuloma. In this paper, we report the case of a 12-year-old boy with a distal-type epithelioid sarcoma of the hand and wish to emphasize the difficulties of diagnosing this potentially lethal tumor both clinically and histologically.
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http://dx.doi.org/10.1111/pde.14352DOI Listing
January 2021

Genetic predisposition and environmental factors associated with the development of atopic dermatitis in infancy: a prospective birth cohort study.

Eur J Pediatr 2020 Sep 6;179(9):1367-1377. Epub 2020 Mar 6.

Pediatric Dermatology Unit, Departments of Dermatology & Venereology, and Pediatrics, University Hospital Lausanne, University of Lausanne, Chemin de Montétan 16, 1004, Lausanne, Switzerland.

The influence of environmental factors on atopic dermatitis (AD) has been investigated in many cross-sectional studies. It remains however unclear if they could influence AD development early in life. This prospective birth cohort study aimed to monitor aspects of family lifestyle and child's nutrition within a Caucasian population and to assess its association with AD development over the first 2 years of life. Genetic predisposition was evaluated based on family history and profilaggrin genotyping. Of 149 included children, 36 developed AD. Infants with a family history of atopy developed AD 2.6 times more frequently (30 of 97) than infants without atopic predisposition (6 of 52). Genotyping was carried out on 50% of the children included. Profilaggrin mutations (R501X, 2282del4, R2447X, and S3247X) were infrequent in our population. Lower incidence of AD was observed in infants exposed to a damp housing environment, lower household income, and smoking mothers with a higher but not with a lower education level.Conclusion: Family history of atopy was a significant risk factor for AD regardless of the most common, currently defined, FLG mutations. Humidity at home and passive smoking seem associated with AD development in infancy. What is Known: • Atopic dermatitis (AD) is associated with mutations in various genes of the immune system and the epidermal barrier complex in particular filaggrin (FLG) mutation. • Inherited factors alone cannot explain the rising AD; environmental factors are therefore likely to play a decisive role in this rise but the exact role that these factors may play in increasing AD risk in infancy remains unclear. Moreover, the relationship between environmental factors and AD has been the focus of mostly cross-sectional studies and not prospective studies. What is New: • This prospective birth cohort study demonstrates that family history of atopy is a significant risk factor for AD regardless of the most common, currently defined, FLG mutations. • A lower incidence of AD was observed in infants exposed to a moist housing environment, lower household income, and smoking of mothers with a higher but not with a lower education level.
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http://dx.doi.org/10.1007/s00431-020-03616-5DOI Listing
September 2020

[Telemedicine in pediatric dermatology:focus on current practices].

Rev Med Suisse 2019 Mar;15(644):674-677

Unité de dermatologie pédiatrique, Services de pédiatrie et de dermatologie et vénéréologie, CHUV, 1011 Lausanne.

Pediatric teledermatology (PTD) allows offering long distance health care advice in pediatric dermatology trough telecommunication technologies. Due to the lack of pediatric dermatologists, the frequency of dermatological questions in general pediatrics, the visual nature of the specialty, and the rare occurrence of vital emergencies in dermatology, PTD appears to be a good option for giving long distance advice in a certain number of skin conditions. In this article, we will discuss benefits and limitations of PTD. We will also talk about diagnostic and therapeutic concordance between PTD and traditional consultations, as well as the most frequent advices asked.
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March 2019

[What's new in the management of atopic dermatitis in children and adolescents ?]

Rev Med Suisse 2018 Mar;14(600):692-697

Unité de dermatologie pédiatrique, Services de dermatologie et vénérologie et de pédiatrie, CHUV, Site de l'Hôpital de l'enfance, Chemin de Montétan 16, 1004 Lausanne.

A better understanding of the atopic dermatitis (AD) pathogenesis and the need for more efficient and safer treatments in severe AD promoted the development of new therapies. Several underwent and are still undergoing clinical trials, but due to safety reasons, they include mainly adults for now. AD is however predominant in childhood with a prevalence 20 % in children compared to only 5 % in adults. Regarding the pediatric population, the new pipeline relies on two selective immunosuppressive agents, notably crisaborole (phosphodiesterase-4 inhibitor) and dupilumab (IL-4 and IL-13 inhibitor). In order to strengthen the medical treatment, therapeutic patient education plays a supportive role in the global approach, allowing an optimized care. The Lausanne model of the Pediatric Dermatology Unit is described in this article.
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March 2018

[Nail alterations in children].

Rev Med Suisse 2018 Mar;14(600):676-682

Unité de dermatologie pédiatrique, Services de dermatologie et vénéréologie et de pédiatrie, CHUV, 1011 Lausanne.

Alterations of the nail unit in children may be congenital or acquired, may be an isolated finding or part of a systemic problem or a syndrome. In this article we describe the most common childhood nail changes and underscore some important clinical clues that should motivate further investigations. Moreover we give a brief overview of the management of these nail pathologies.
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March 2018

[Rare vascular diseases, building dedicated multidisciplinary specialized center].

Rev Med Suisse 2017 Dec;13(586):2109-2115

Service d'angiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.

Rare Vascular Diseases (RVD) encompass different types of vessel involvement. Some cause a dilation, others a weakening or tortuosity of the arterial wall, others an obstruction or excessive calcification of arterial walls. Clinical pathway of patients with RVD to diagnosis is often long and complex. Thus, in order to allow early diagnosis and coordinated multidisciplinary management and follow-up, a specialized RVD centre has been set-up at the CHUV, following the framework of the national concept of rare diseases.
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December 2017

Skin Colonization by Staphylococcus aureus Precedes the Clinical Diagnosis of Atopic Dermatitis in Infancy.

J Invest Dermatol 2017 12 24;137(12):2497-2504. Epub 2017 Aug 24.

Department of Dermatology and Venereology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland; Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. Electronic address:

Atopic dermatitis (AD) has a well-established association with skin colonization or infection by Staphylococcus aureus, which can exacerbate the disease. However, a causal relationship between specific changes in skin colonization during the first years of life and AD development still remains unclear. In this prospective birth cohort study, we aimed to characterize the association between skin colonization and AD development in 149 white infants with or without a family history of atopy. We assessed infants clinically and collected axillary and antecubital fossa skin swabs for culture-based analysis at birth and at seven time points over the first 2 years of life. We found that at age 3 months, S. aureus was more prevalent on the skin of infants who developed AD later on. S. aureus prevalence was increased on infants' skin at the time of AD onset and also 2 months before it, when compared with age-matched, unaffected infants. Furthermore, at AD onset, infants testing positive for S. aureus were younger than uncolonized subjects. In conclusion, our results suggest that specific changes in early-life skin colonization may actively contribute to clinical AD onset in infancy.
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http://dx.doi.org/10.1016/j.jid.2017.07.834DOI Listing
December 2017

IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.

J Allergy Clin Immunol 2016 Apr 20;137(4):1189-1196.e2. Epub 2015 Nov 20.

Immunology, Allergology and Rheumatology Unit, Department of Pediatrics, Lausanne University Hospital, Lausanne, Switzerland. Electronic address:

Background: Data on patients affected by chronic mucocutaneous candidiasis underscore the preponderant role of IL-17 receptor A (IL-17RA) in preserving mucocutaneous immunity. Little is known about the role of adenosine deaminase (ADA) 2 in regulation of immune responses, although recent reports linked ADA2 deficiency with inflammation and vasculitis.

Objective: We sought to investigate the mechanisms of chronic inflammation and vasculitis in a child lacking IL-17RA and ADA2 to identify therapeutic targets.

Methods: We report a family with 2 siblings who have had recurrent mucocutaneous infections with Candida albicans and Staphylococcus aureus and chronic inflammatory disease and vasculitis since early childhood, which were refractory to classical treatments. Array-based comparative genomic hybridization analysis showed that both siblings are homozygous for a 770-kb deletion on chr22q11.1 encompassing both IL17RA and cat eye critical region 1 (CECR1). Immunologic studies were carried out by means of flow cytometry, ELISA, and RIA.

Results: As expected, in the affected child we found a lack of IL-17RA expression, which implies a severe malfunction in the IL-17 signaling pathway, conferring susceptibility to recurrent mucocutaneous infections. Surprisingly, we detected an in vitro and in vivo upregulation of proinflammatory cytokines, notably IL-1β and TNF-α, which is consistent with the persistent systemic inflammation.

Conclusions: This work emphasizes the utility of whole-genome analyses combined with immunologic investigation in patients with unresolved immunodeficiency. This approach is likely to provide an insight into immunologic pathways and mechanisms of disease. It also provides molecular evidence for more targeted therapies. In addition, our report further corroborates a potential role of ADA2 in modulating immunity and inflammation.
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http://dx.doi.org/10.1016/j.jaci.2015.07.053DOI Listing
April 2016

[Atopic dermatitis in children: general principles of management].

Rev Med Suisse 2013 Apr;9(380):712, 714-7

Unité de dermatologie pédiatrique, Service de dermatologie, et vénéréologie, Département médico-chirurgical de pédiatrie, CHUV, Hôpital de Beaumont, Av. de Beaumont 29, 1011 Lausanne.

Atopic dermatitis is the most frequent dermatosis in childhood. Numerous studies underscored the central role of skin barrier alterations in the pathogenesis of the inflammatory skin lesions. The management of atopic dermatitis has to be multidimensional. It combines among others some daily local care and a sporadic topical anti-inflammatory treatment during the acute flare-ups. The objective of this article is to summarize, in light of the recent European guidelines, the general principles of management of atopic dermatitis, for the general practitioner.
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April 2013

[White skin marks].

Rev Med Suisse 2010 Jun;6(254):1308-9

Service de dermatologie et vénéréologie, CHUV, Hôpital de Beaumont, 1011 Lausanne.

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June 2010

[Pathogenesis of atopic dermatitis].

Rev Med Suisse 2010 Apr;6(246):860-2, 864-5

Service de dermatologie et de vénéréologie, Hôpital de Beaumont, Avenue de Beaumont 29 CHUV, 1011 Lausanne.

Although atopic dermatitis (AD) is a very frequent disease in our society, it is still poorly understood. AD mainly results from a complex interaction between a cutaneous barrier dysfunction, a dysregulation of the immune system and environmental factors. Recent studies have highlighted new mutations in genes coding for skin proteins inducing AD. Furthermore, a new cytokine named TSLP was discovered. TSLP plays a major role in allergic inflammation and represents a big step further in the understanding of AD pathogenesis. However, there are still a lot of unknown factors in this disease, which are actually thouroughly investigated in numerous studies.
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April 2010

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

Arch Dermatol 2009 Nov;145(11):1285-91

Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by a decreased ability to repair DNA damaged by UV radiation and the early development of cutaneous and ocular malignant neoplasms. Approximately 20% of patients with XP also develop progressive neurologic degeneration.

Observations: We describe a boy who was found to have XP after a severe burn following minimal sun exposure. His maternal uncle, now age 20 years, had been diagnosed with XP after a similar sunburn in infancy. The uncle has the typical skin pigmentary findings of XP along with severe progressive neurologic involvement. Although the infant's parents were not known to be blood relatives, the infant and his affected uncle proved to be compound heterozygotes for the same 2 frameshift mutations in the XPA DNA repair gene (c.288delT and c.349_353del). After the diagnosis of XP in the infant, genealogic investigation identified a common Dutch ancestor for both of his grandfathers 5 generations back.

Conclusions: Counseling families at risk for a rare inherited disease is not always straightforward. The sociocultural and demographic backgrounds of the families must be considered for evaluation of risk assessment.
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http://dx.doi.org/10.1001/archdermatol.2009.279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472955PMC
November 2009

Histoplasma capsulatum var. duboisii infection in a patient with AIDS: rapid diagnosis using polymerase chain reaction-sequencing.

Diagn Microbiol Infect Dis 2009 May 21;64(1):85-9. Epub 2009 Mar 21.

Infectious Diseases Service, Centre Hospitalier Universitaire Vaudois, University of Lausanne, 1011 Lausanne, Switzerland.

We describe an original case of disseminated infection with Histoplasma capsulatum (Hc) var. duboisii in an African patient with AIDS who migrated to Switzerland. The diagnosis of histoplasmosis was suggested using direct examination of tissues and confirmed in 24 h with a panfungal polymerase chain reaction assay. The variety duboisii of Hc was established using DNA sequencing of the polymorphic genomic region OLE. Molecular tools allow diagnosis of histoplasmosis in 24 h, which is drastically shorter than culture procedures.
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http://dx.doi.org/10.1016/j.diagmicrobio.2009.01.001DOI Listing
May 2009

Pediatric morphea (localized scleroderma): review of 136 patients.

J Am Acad Dermatol 2008 Sep 20;59(3):385-96. Epub 2008 Jun 20.

Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611-2997, USA.

Background: Morphea is an autoimmune inflammatory sclerosing disorder that may cause permanent functional disability and disfigurement.

Objectives: We sought to determine the clinical features of morphea in a large pediatric cohort.

Methods: We conducted a retrospective chart review of 136 pediatric patients with morphea from one center, 1989 to 2006.

Results: Most children showed linear morphea, with a disproportionately high number of Caucasian and female patients. Two patients with rapidly progressing generalized or extensive linear morphea and arthralgias developed restrictive pulmonary disease. Initial oral corticosteroid treatment and long-term methotrexate administration stabilized and/or led to disease improvement in most patients with aggressive disease.

Limitations: Retrospective analysis, relatively small sample size, and risk of a selected referral population to the single site are limitations.

Conclusions: These data suggest an increased prevalence of morphea in Caucasian girls, and support methotrexate as treatment for problematic forms. Visceral manifestations rarely occur; the presence of progressive problematic cutaneous disease and arthralgias should trigger closer patient monitoring.
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http://dx.doi.org/10.1016/j.jaad.2008.05.005DOI Listing
September 2008

Persistent association of nailfold capillaroscopy changes and skin involvement over thirty-six months with duration of untreated disease in patients with juvenile dermatomyositis.

Arthritis Rheum 2008 Feb;58(2):571-6

Northwestern University Feinberg School of Medicine, Chicago, Illinois 60614, USA.

Objective: To determine the association of changes on nailfold capillaroscopy with clinical findings and genotype in children with juvenile dermatomyositis (DM), in order to identify potential differences in disease course over 36 months.

Methods: At diagnosis of juvenile DM in 61 children prior to the initiation of treatment, tumor necrosis factor alpha (TNFalpha) -308 allele and DQA1*0501 status was determined, juvenile DM Disease Activity Scores (DAS) were obtained, and nailfold capillaroscopy was performed. The disease course was monitored for 36 months. Variations within and between patients were assessed by regression analysis.

Results: At diagnosis, shorter duration of untreated disease (P = 0.05) and a lower juvenile DM skin DAS (P = 0.035) were associated with a unicyclic disease course. Over 36 months, end-row loop (ERL) regeneration was associated with lower skin DAS (P < 0.001) but not muscle DAS (P = 0.98); ERL regeneration and decreased bushy loops were associated with a shorter duration of untreated disease (P = 0.04 for both). At 36 months, increased ERL regeneration (P = 0.007) and improvement of skin DAS (P < 0.001) and muscle DAS (P = 0.025) were associated with a unicyclic disease course.

Conclusion: Early treatment of juvenile DM may lead to a unicyclic disease course. The non-unicyclic disease course usually involves continuing skin manifestations with persistent nailfold capillaroscopy changes. The correlation of nailfold capillaroscopy results with cutaneous but not with musculoskeletal signs of juvenile DM over a 36-month period suggests that the cutaneous and muscle vasculopathies have different pathophysiologic mechanisms. These findings indicate that efforts to identify the optimal treatment of cutaneous features in juvenile DM require greater attention.
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http://dx.doi.org/10.1002/art.23299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830145PMC
February 2008

An 11-year-old girl with knuckle plaques. Knuckle pads.

Pediatr Ann 2007 Aug;36(8):459-60

Division of Dermatology, Children's Memorial Medical Center, Northwestern University, Chicago, IL, USA.

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http://dx.doi.org/10.3928/0090-4481-20070801-05DOI Listing
August 2007

An 8-year-old girl with hair loss. Trichotillomania.

Pediatr Ann 2007 May;36(5):258-9

Division of Dermatology, Children's Memorial Medical Center, Northwestern University, Chicago, IL, USA.

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http://dx.doi.org/10.3928/0090-4481-20070501-05DOI Listing
May 2007

SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda.

J Invest Dermatol 2007 Feb 28;127(2):301-8. Epub 2006 Sep 28.

Laboratory of Cutaneous Biology, Department of Dermatology, CHUV, Lausanne, Switzerland.

SLURP1 is a secreted member of the LY6/PLAUR protein family. Mutations in the SLURP1 gene are the cause of Mal de Meleda (MDM), a rare autosomal recessive genetic disease, characterized by inflammatory palmoplantar keratoderma. In this study, we have analyzed the expression of SLURP1 in normal and MDM skin. SLURP1 was found to be a marker of late differentiation, predominantly expressed in the granular layer of skin, notably the acrosyringium. Moreover, SLURP1 was also identified in several biological fluids such as sweat, saliva, tears, and urine from normal volunteers. In palmoplantar sections from MDM patients, as well as in their sweat, mutant SLURP1, including the new variant R71H-SLURP1, was either absent or barely detectable. Transfected human embryonic kidney 293T cells expressed the MDM mutant SLURP1 containing the single amino-acid substitution G86R but did not tolerate the MDM mutation W15R located in the signal peptide. Thus, most MDM mutations in SLURP1 affect either the expression, integrity, or stability of the protein, suggesting that a simple immunologic test could be used as a rapid screening procedure.
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http://dx.doi.org/10.1038/sj.jid.5700551DOI Listing
February 2007