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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
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) compriseExpand
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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
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 theExpand
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Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
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 tissueExpand
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The skin landscape in diabetes mellitus. Focus on dermocosmetic management
Background Some relationships are established between diabetes mellitus (DM) and a series of cutaneous disorders. Specific dermatoses are markers for undiagnosed DM. Other disorders representExpand
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A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement
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 EDSExpand
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Ehlers-Danlos-Like Dermal Abnormalities in Women with Recurrent Preterm Premature Rupture of Fetal Membranes
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 alsoExpand
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Ustekinumab in Psoriasis Immunopathology with Emphasis on the Th17-IL23 Axis: A Primer
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, asExpand
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Scleroderma: skin stiffness assessment using the stress-strain relationship under progressive suction.
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
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Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients
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 aExpand
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Cyclic Catamenial Dermatoses
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 theExpand
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