0000000000180923
AUTHOR
Marie Hélène Aubriot-lorton
showing 3 related works from this author
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures
2014
International audience; Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20–25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 micro-deletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously r…
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
2014
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849…
Livedo: une présentation clinique rare de mycosis fongoïde avec vascularite
2021
Introduction Le mycosis fongoide (MF), lymphome cutane T primitif le plus frequent, peut prendre des formes cliniques tres variees. Nous rapportons 3 cas d’une forme rare associant des plaques de MF a des lesions livedoides necrotiques correspondant a une vasculite cutanee (VC) associee. Materiel et methodes Cas 1: Un patient de 82 ans aux antecedents de leucemie lymphoide chronique B et de MF traite par dermocorticoides presentait un livedo racemosa du tronc, complique de necroses et ulcerations cutanees douloureuses. L’aspect histologique etait celui d’un infiltrat lymphoide dermique atypique, de phenotype T CD3(+), CD4(+), CD8(-) avec pilotropisme et epidermotropisme, associe en profonde…