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Article ; Online: Epidermal or Dermal Collagen VII Is Sufficient for Skin Integrity: Insights to Anchoring Fibril Homeostasis.

Conradt, Gregor / Hausser, Ingrid / Nyström, Alexander

The Journal of investigative dermatology

2023

Abstract: Collagen VII forms anchoring fibrils that are essential for the stability of the skin and other epithelial organs. In addition to such structural functions, it is emerging that collagen VII fills instructive functions. Collagen VII is synthesized by both ...

Abstract	Collagen VII forms anchoring fibrils that are essential for the stability of the skin and other epithelial organs. In addition to such structural functions, it is emerging that collagen VII fills instructive functions. Collagen VII is synthesized by both epithelial cells and fibroblasts. Genetic loss of collagen VII causes dystrophic epidermolysis bullosa, which manifests with chronic skin fragility and fibrosis. Significant progress has been made in developing therapies for dystrophic epidermolysis bullosa; however, such work has also raised questions on the importance of the cellular source of collagen VII for maintenance of tissue integrity and homeostasis. Toward this end, we engineered mice that kept the physiological expression of collagen VII only in epithelial cells or in fibroblasts. Our study revealed that production of collagen VII either by keratinocytes or fibroblasts alone is sufficient for creation of mechanically robust skin. Importantly, we also show tissue-diverse dependence on epithelial and mesenchymal production of collagen VII and provide support for limited amounts of collagen VII being sufficient for tissue protection. Furthermore, a disconnect between collagen VII abundance and anchoring fibril numbers supports the concept that restoration of fully physiological collagen VII levels may not be needed to achieve complete mechanical protection of dystrophic epidermolysis bullosa skin.
Language	English
Publishing date	2023-11-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	80136-7
ISSN	1523-1747 ; 0022-202X
ISSN (online)	1523-1747
ISSN	0022-202X
DOI	10.1016/j.jid.2023.11.003
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Article ; Online: Cell tropism and viral clearance during SARS-CoV-2 lung infection.

Schwab, Constantin / Domke, Lisa Maria / Rose, Fabian / Hausser, Ingrid / Schirmacher, Peter / Longerich, Thomas

Pathology, research and practice

2022 Volume 236, Page(s) 154000

Abstract: Pulmonary capillary microthrombosis has been proposed as a major pathogenetic factor driving severe COVID-19. Autopsy studies reported endothelialitis but it is under debate if it is caused by SARS-CoV-2 infection of endothelial cells. In this study, RNA ...

Abstract	Pulmonary capillary microthrombosis has been proposed as a major pathogenetic factor driving severe COVID-19. Autopsy studies reported endothelialitis but it is under debate if it is caused by SARS-CoV-2 infection of endothelial cells. In this study, RNA in situ hybridization was used to detect viral RNA and to identify the infected cell types in lung tissue of 40 patients with fatal COVID-19. SARS-CoV-2 Spike protein-coding RNA showed a steadily decreasing signal abundance over a period of three weeks. Besides the original virus strain the variants of concern Alpha (B.1.1.7), Delta (B.1.617.2), and Omicron (B.1.1.529) could also be detected by the assay. Viral RNA was mainly detected in alveolar macrophages and pulmonary epithelial cells, while only single virus-positive endothelial cells were observed even in cases with high viral load suggesting that viral infection of endothelial cells is not a key factor for the development of pulmonary capillary microthrombosis.
MeSH term(s)	COVID-19 ; Endothelial Cells/metabolism ; Humans ; Lung/pathology ; RNA, Viral ; SARS-CoV-2 ; Spike Glycoprotein, Coronavirus ; Thrombosis/pathology ; Tropism
Chemical Substances	RNA, Viral ; Spike Glycoprotein, Coronavirus ; spike protein, SARS-CoV-2
Language	English
Publishing date	2022-06-30
Publishing country	Germany
Document type	Journal Article
ZDB-ID	391889-0
ISSN	1618-0631 ; 0344-0338
ISSN (online)	1618-0631
ISSN	0344-0338
DOI	10.1016/j.prp.2022.154000
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Article: Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.

Doolan, Brent J / Lavallee, Mark E / Hausser, Ingrid / Schubart, Jane R / Michael Pope, F / Seneviratne, Suranjith L / Winship, Ingrid M / Burrows, Nigel P

Frontiers in medicine

2023 Volume 10, Page(s) 1053466

Abstract: Introduction: The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with variable fragility to skin, soft tissue, and certain internal organs, which can cause significant complications, particularly ... ...

Abstract	Introduction: The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with variable fragility to skin, soft tissue, and certain internal organs, which can cause significant complications, particularly arterial rupture, bowel perforation and joint difficulties. Currently, there are 14 proposed subtypes of EDS, with all except one subtype (hypermobile EDS) having an identified genetic etiology. An understanding of the extracutaneous features and complications within each subtype is key to maximizing clinical care and reducing the risk of further complications. Methods: A systematic review of EDS-related extracutaneous features and complications was undertaken. Results: We identified 839 EDS cases that met the inclusion criteria. We noted a high prevalence of joint hypermobility amongst kyphoscoliotic (39/39, 100%), spondylodysplastic (24/25, 96.0%), and hypermobile (153/160, 95.6%) EDS subtypes. The most common musculoskeletal complications were decreased bone density (39/43, 90.7%), joint pain (217/270, 80.4%), and hypotonia/weakness (79/140, 56.4%). Vascular EDS presented with cerebrovascular events (25/153, 16.3%), aneurysm (77/245, 31.4%), arterial dissection/rupture (89/250, 35.5%), and pneumothorax/hemothorax. Chronic pain was the most common miscellaneous complication, disproportionately affecting hypermobile EDS patients (139/157, 88.5%). Hypermobile EDS cases also presented with chronic fatigue (61/63, 96.8%) and gastrointestinal complications (57/63, 90.5%). Neuropsychiatric complications were noted in almost all subtypes. Discussion: Understanding the extracutaneous features and complications of each EDS subtype may help diagnose and treat EDS prior to the development of substantial comorbidities and/or additional complications. Systematic review registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022308151, identifier CRD42022308151.
Language	English
Publishing date	2023-01-23
Publishing country	Switzerland
Document type	Systematic Review
ZDB-ID	2775999-4
ISSN	2296-858X
ISSN	2296-858X
DOI	10.3389/fmed.2023.1053466
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Article ; Online: Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.

Doolan, Brent J / Lavallee, Mark / Hausser, Ingrid / Pope, F Michael / Seneviratne, Suranjith L / Winship, Ingrid M / Burrows, Nigel P

Journal of the American Academy of Dermatology

2023 Volume 89, Issue 3, Page(s) 551–559

Abstract: Background: The Ehlers-Danlos syndromes (EDSs) comprise a group of connective tissue disorders that manifest with skin hyperextensibility, easy bruising, joint hypermobility and fragility of skin, soft tissues, and some organs. A correct assessment of ... ...

Abstract	Background: The Ehlers-Danlos syndromes (EDSs) comprise a group of connective tissue disorders that manifest with skin hyperextensibility, easy bruising, joint hypermobility and fragility of skin, soft tissues, and some organs. A correct assessment of cutaneous features along with the use of adjunct technologies can improve diagnostic accuracy. Objectives: To systematically review the cutaneous features and adjunct investigations of EDS. Methods: A search of PubMed and Web of Science for EDS-related cutaneous features and additional investigations was undertaken from publication of the 2017 International Classification of EDS until January 15, 2022. Results: One-hundred-and-forty studies involved 839 patients with EDS. The EDS female-to-male ratio was 1.36:1 (P < .001). A high prevalence of skin hyperextensibility, bruising, and soft skin were noted. Most patients with vascular Ehlers-Danlos syndrome showed venous visibility, skin fragility, and acrogeria. Classical EDS showed subcutaneous spheroids and molluscoid pseudotumours. In patients that underwent skin biopsies, only 30.3% and 71.4% showed features suggestive of EDS using light microscopy and transmission electron microscopy, respectively. Limitations: Retrospective study and small cases numbers for some EDS-subtypes. Conclusions: An accurate clinical diagnosis increases the chances of a molecular diagnosis, particularly for rarer EDS subtypes, whilst decreasing the need for genetic testing where there is a low clinical suspicion for a monogenic EDS-subtype.
MeSH term(s)	Humans ; Female ; Male ; Retrospective Studies ; Ehlers-Danlos Syndrome/diagnosis ; Ehlers-Danlos Syndrome/genetics ; Ehlers-Danlos Syndrome/pathology ; Connective Tissue Diseases
Language	English
Publishing date	2023-02-08
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	603641-7
ISSN	1097-6787 ; 0190-9622
ISSN (online)	1097-6787
ISSN	0190-9622
DOI	10.1016/j.jaad.2023.01.034
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Article ; Online: Skin fragility and wound management in Ehlers- Danlos Syndrome: a report by the Ehlers Danlos Syndrome society skin working group.

Angwin, Chloe / Doolan, Brent J / Hausser, Ingrid / Labine, Barry / Lavallee, Mark / Mackay, Donald / Pope, F Michael / Seneviratne, Suranjith L / Winship, Ingrid / Burrows, Nigel P

Clinical and experimental dermatology

2024

Abstract: The Ehlers-Danlos Syndromes (EDS) are a heterogenous group of heritable connective tissue disorders, characterised by joint hypermobility, skin hyperextensibility and generalised tissue fragility. In all types of EDS skin wound healing is impaired to a ... ...

Abstract	The Ehlers-Danlos Syndromes (EDS) are a heterogenous group of heritable connective tissue disorders, characterised by joint hypermobility, skin hyperextensibility and generalised tissue fragility. In all types of EDS skin wound healing is impaired to a variable degree. Additional support through wound management plans may help to improve these outcomes, however, there is paucity of evidence regarding clinical management of skin fragility and wounds in EDS. This paper aims to review current evidence and provide recommendations for management of skin wounds in EDS types. Preventative measures to avoid skin injury are strongly recommended, including avoidance of high impact sport and use of appropriate protection such as shin guards. Bruising is common and some types of EDS are associated with haematoma formation with management including compression bandages and consideration of pharmacological therapy. Skin fragility and tears should be managed with a focus on protection of remaining tissue, avoidance of wound tension and low adherence dressings to avoid further injury. This paper provides clear recommendations to address skin management for this group of patients. It highlights the lack of good quality published data to support treatment decisions.
Language	English
Publishing date	2024-05-20
Publishing country	England
Document type	Journal Article
ZDB-ID	195504-4
ISSN	1365-2230 ; 0307-6938
ISSN (online)	1365-2230
ISSN	0307-6938
DOI	10.1093/ced/llae201
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Zs.A 1278: Show issues

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Article: Comparative Morphological, Metabolic and Transcriptome Analyses in

Boger, Mike / Bennewitz, Katrin / Wohlfart, David Philipp / Hausser, Ingrid / Sticht, Carsten / Poschet, Gernot / Kroll, Jens

Frontiers in cell and developmental biology

2022 Volume 10, Page(s) 918529

Abstract: The ELMO protein family consists of the homologues ELMO1, ELMO2 and ELMO3. Several studies have shown that the individual ELMO proteins are involved in a variety of cellular and developmental processes. However, it has poorly been understood whether the ... ...

Abstract	The ELMO protein family consists of the homologues ELMO1, ELMO2 and ELMO3. Several studies have shown that the individual ELMO proteins are involved in a variety of cellular and developmental processes. However, it has poorly been understood whether the Elmo proteins show similar functions and act redundantly. To address this question,
Language	English
Publishing date	2022-07-08
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2737824-X
ISSN	2296-634X
ISSN	2296-634X
DOI	10.3389/fcell.2022.918529
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Article ; Online: The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.

Stembridge, Natasha / Doolan, Brent J / Lavallee, Mark E / Hausser, Ingrid / Pope, F Michael / Seneviratne, Suranjith L / Winship, Ingrid M / Burrows, Nigel P

Skin health and disease

2022 Volume 3, Issue 1, Page(s) e140

Abstract: The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyperextensibility, joint hypermobility, abnormal scarring and fragility of skin, blood vessels and some organs. The disease is ... ...

Abstract	The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyperextensibility, joint hypermobility, abnormal scarring and fragility of skin, blood vessels and some organs. The disease is generally diagnosed through the cluster of clinical features, though the addition of genetic analysis is the gold standard for diagnosis of most subtypes. All subtypes display skin manifestations, which are essential to the accurate clinical diagnosis of the condition. Furthermore, cutaneous features can be the first and/or only presenting feature in some cases of EDS and thus understanding these signs is vital for diagnosis. This review focuses on particular cutaneous features of each EDS subtype and their clinical importance. Provision of a specific diagnosis is important for management, prognosis and genetic counselling, often for family members beyond the individual.
Language	English
Publishing date	2022-07-15
Publishing country	England
Document type	Journal Article ; Review
ISSN	2690-442X
ISSN (online)	2690-442X
DOI	10.1002/ski2.140
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Article ; Online: Spiny keratoderma of the palms and soles - once seen, never forgotten.

Gaiser, Maria Rita / Hausser, Ingrid / Hassel, Jessica Cecile

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

2017 Volume 15, Issue 9, Page(s) 939–941

MeSH term(s)	Aged, 80 and over ; Diagnosis, Differential ; Epidermis/ultrastructure ; Humans ; Keratoderma, Palmoplantar/diagnosis ; Male ; Microscopy, Electron
Language	English
Publishing date	2017-09-01
Publishing country	Germany
Document type	Case Reports ; Letter
ZDB-ID	2093479-8
ISSN	1610-0387 ; 1610-0379
ISSN (online)	1610-0387
ISSN	1610-0379
DOI	10.1111/ddg.13313
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Article ; Online: Spiny Keratoderma der Hand- und Fußflächen - einmal gesehen, nie wieder vergessen.

Gaiser, Maria Rita / Hausser, Ingrid / Hassel, Jessica Cecile

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

2017 Volume 15, Issue 9, Page(s) 938–940

Language	English
Publishing date	2017-09-04
Publishing country	Germany
Document type	Letter
ZDB-ID	2093479-8
ISSN	1610-0387 ; 1610-0379
ISSN (online)	1610-0387
ISSN	1610-0379
DOI	10.1111/ddg.13313_g
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Article ; Online: Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.

Dhooge, Tibbe / Syx, Delfien / Hermanns-Lê, Trinh / Hausser, Ingrid / Mortier, Geert / Zonana, Jonathan / Symoens, Sofie / Byers, Peter H / Malfait, Fransiska

Genetics in medicine : official journal of the American College of Medical Genetics

2021 Volume 23, Issue 12, Page(s) 2378–2385

Abstract: Purpose: Infantile Caffey disease is a rare disorder characterized by acute inflammation with subperiosteal new bone formation, associated with fever, pain, and swelling of the overlying soft tissue. Symptoms arise within the first weeks after birth and ...

Abstract	Purpose: Infantile Caffey disease is a rare disorder characterized by acute inflammation with subperiosteal new bone formation, associated with fever, pain, and swelling of the overlying soft tissue. Symptoms arise within the first weeks after birth and spontaneously resolve before the age of two years. Many, but not all, affected individuals carry the heterozygous pathogenic COL1A1 variant (c.3040C>T, p.(Arg1014Cys)). Methods: We sequenced COL1A1 in 28 families with a suspicion of Caffey disease and performed ultrastructural, immunocytochemical, and biochemical collagen studies on patient skin biopsies. Results: We identified the p.(Arg1014Cys) variant in 23 families and discovered a novel heterozygous pathogenic COL1A1 variant (c.2752C>T, p.(Arg918Cys)) in five. Both arginine to cysteine substitutions are located in the triple helical domain of the proα1(I) procollagen chain. Dermal fibroblasts (one patient with p.(Arg1014Cys) and one with p.(Arg918Cys)) produced molecules with disulfide-linked proα1(I) chains, which were secreted only with p.(Arg1014Cys). No intracellular accumulation of type I procollagen was detected. The dermis revealed mild ultrastructural abnormalities in collagen fibril diameter and packing. Conclusion: The discovery of this novel pathogenic variant expands the limited spectrum of arginine to cysteine substitutions in type I procollagen. Furthermore, it confirms allelic heterogeneity in Caffey disease and impacts its molecular confirmation.
MeSH term(s)	Arginine/genetics ; Child, Preschool ; Collagen Type I ; Collagen Type I, alpha 1 Chain/genetics ; Cysteine/genetics ; Humans ; Hyperostosis, Cortical, Congenital ; Mutation ; Procollagen/genetics
Chemical Substances	COL1A1 protein, human ; Collagen Type I ; Collagen Type I, alpha 1 Chain ; Procollagen ; Procollagen Type I ; Arginine (94ZLA3W45F) ; Cysteine (K848JZ4886)
Language	English
Publishing date	2021-07-16
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-021-01274-y
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