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- Influence
Musculocontractural Ehlers‐Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan‐4‐sulfotransferase…
- F. Malfait, D. Syx, +5 authors A. de Paepe
- Biology, Medicine
- Human mutation
- 1 November 2010
We present clinical and molecular findings of three patients with an EDS VIB phenotype from two consanguineous families. The clinical findings of EDS kyphoscoliotic type (EDS type VIA and B) comprise… Expand
Three arginine to cysteine substitutions in the pro‐alpha (I)‐collagen chain cause Ehlers‐Danlos syndrome with a propensity to arterial rupture in early adulthood
- F. Malfait, S. Symoens, +5 authors A. De Paepe
- Biology, Medicine
- Human mutation
- 1 April 2007
Mutations in the COL1A1 and COL1A2 genes, encoding the proα1 and 2 chains of type I collagen, cause osteogenesis imperfecta (OI) or Ehlers‐Danlos syndrome (EDS) arthrochalasis type. Although the… Expand
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
- D. Syx, T. Damme, +9 authors F. Malfait
- Biology, Medicine
- Human mutation
- 1 May 2015
Bi‐allelic variants in CHST14, encoding dermatan 4‐O‐sulfotransferase‐1 (D4ST1), cause musculocontractural Ehlers–Danlos syndrome (MC‐EDS), a recessive disorder characterized by connective tissue… Expand
The skin landscape in diabetes mellitus. Focus on dermocosmetic management
- G. Piérard, S. Seité, T. Hermanns-Lê, P. Delvenne, A. Scheen, C. Piérard‐franchimont
- Medicine
- Clinical, cosmetic and investigational…
- 15 May 2013
Background Some relationships are established between diabetes mellitus (DM) and a series of cutaneous disorders. Specific dermatoses are markers for undiagnosed DM. Other disorders represent… Expand
A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement
- S. Symoens, F. Malfait, P. Vlummens, T. Hermanns-Lê, D. Syx, A. de Paepe
- Medicine, Biology
- PloS one
- 17 May 2011
Background The Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. The classic subtype of EDS… Expand
Ehlers-Danlos-Like Dermal Abnormalities in Women with Recurrent Preterm Premature Rupture of Fetal Membranes
- T. Hermanns-Lê, G. Piérard, P. Quatresooz
- Medicine
- The American Journal of dermatopathology
- 1 October 2005
Preterm premature rupture of membranes (PPROM) likely results from weakening of the constituent connective tissue. It is uncertain if the alterations are limited to the fetal membranes or are also… Expand
Ustekinumab in Psoriasis Immunopathology with Emphasis on the Th17-IL23 Axis: A Primer
- P. Quatresooz, T. Hermanns-Lê, G. Piérard, P. Humbert, P. Delvenne, C. Piérard‐franchimont
- Medicine
- Journal of biomedicine & biotechnology
- 12 June 2012
Psoriasis is a chronic relapsing immunoinflammatory dermatosis that is commonly associated with systemic comorbidities. The pathogenic importance of interleukin (IL)-12 and IL-23 is beyond doubt, as… Expand
Scleroderma: skin stiffness assessment using the stress-strain relationship under progressive suction.
- G. Piérard, T. Hermanns-Lê, C. Piérard‐franchimont
- Medicine
- Expert opinion on medical diagnostics
- 21 February 2013
INTRODUCTION
A few non-invasive biometrological methods are available for monitoring skin stiffening in systemic scleroderma. Among them, the Cutometer® is used for years by several clinical teams.… Expand
Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients
- S. Ronceray, J. Miquel, +4 authors A. Dupuy
- Medicine
- Case reports in dermatological medicine
- 3 October 2013
Ehlers-Danlos syndrome type VIII (EDS-VIII) is a very rare autosomal dominant disease characterized by early-onset periodontitis associated with features of Ehlers-Danlos syndrome. We report a… Expand
Cyclic Catamenial Dermatoses
- T. Hermanns-Lê, J. Hermanns, Marianne Lesuisse, G. Piérard
- Medicine
- BioMed research international
- 2 October 2013
Circulating sex hormones follow major fluctuations during the ovarian cycle. The so-called premenstrual syndrome represents a global condition grouping the diversity of catamenial disorders. At the… Expand