Publications by authors named "A Rouffet"

Article Synopsis
  • Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disorder that leads to skin changes, primarily yellow papules and excess skin around areas like the neck, causing notable aesthetic and psychological effects, especially in women.* -
  • A study conducted at a University-Hospital from 2007 to 2022 evaluated treatment options for patients with PXE, focusing on surgical procedures to reduce the size of skin lesions rather than complete removal.* -
  • Out of 250 patients, 30 underwent surgery with methods like facelifts and skin tightening; results were mostly satisfactory with no complications, highlighting the potential for effective surgical intervention in managing PXE-related skin issues.*
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Background: The Face is the most frequent localization for cutaneous carcinoma. The nose accounts for about 30% of these tumors. Nose tissue loss repair has to pursue 3 types of objectives: carcinologic, aesthetic and functional.

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Background: Preserving the integrity of the eyelid margin in eyelid reconstruction remains a challenge for plastic surgeons. In 1976, Hübner described a technique to repair full-thickness eyelid defects using a tarsomarginal graft covered with a local flap. This simple technique addresses both functional and aesthetic requirements of eyelid reconstruction by using tissue from the contralateral eyelid.

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We describe a new case of mosaic isochromosome 20q revealed by amniocentesis. A 46,XX/46,XX,i(20q) chromosomic complement was indirectly confirmed by fluorescent in situ hybridization. Since control chromosome analysis performed on cord blood showed a normal karyotype, pregnancy was continued and resulted in the birth of a normal female infant.

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The coexistence in an epileptic patient of a radiologically confirmed agenesis of the corpus callosum and other somatic abnormalities, notably skeletal, prompted us to perform a karyotype which showed an extra chromosome 8. The trisomy 8-callosal agenesis association is not exceptional, but it may easily be missed owing to the absence or scarcity of clinical signs of the cerebral malformation. We would suggest that patients with confirmed agenesis of the corpus callosum should be investigated for trisomy 8 and conversely, that patients with trisomy 8 detected during examination for a characteristic malformative syndrome should be systematically investigated for abnormality of the neocortical commissure.

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