Treatment of skin lesions related to pseudoxanthoma elasticum in plastic surgery.

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a hereditary disorder of connective tissue characterized by progressive calcification and fragmentation of elastic fibers, which primarily affects the skin, retinal and arterial walls. Skin damage takes the form of yellow papules that can merge to create a cutaneous fold. This is accompanied by an excess of skin on the different sides of the neck and in the largest folds. These changes to the skin have a significant aesthetic, functional and psychological impact, especially among women. PATIENTS AND METHODS: We evaluated the treatment options in all patients with PXE of our University-Hospital. This group contains people who have been hospitalized for the assessment of their disease and applicants for surgical correction. The goal of the surgery was not the total removal of the lesions but instead a decrease in their size and a tightening of the skin. RESULTS: In total, 250 patients were seen between 2007 and 2022. Surgical treatment was advised for 29 women and 1 man. The main interventions were based on standard techniques such as cervico-facial facelifts, brachioplasties and cruroplasties. The results obtained during postoperative follow-up consultations were rated satisfactory to very good, both aesthetically and functionally. There were no postoperative complications recorded: neither bruising nor scarring issues. Patients with PXE heal as normal. CONCLUSION: Surgical treatment for excess skin observed during PXE is poorly described. Yet, these excesses can be removed when they become troublesome by making use of and adapting the traditional methods of plastic surgery for tightening of the skin.

[Nasal reconstruction: Decision tree based on 229 operated cases]. / Reconstruction des pertes de substances du nez : algorithme décisionnel à propos de 229 cas.

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. The aim of this article is to identify a decision tree to guide the choice of surgical reconstruction technique based on localization and size of the defect. PATIENTS AND METHODS: We performed a retrospective analysis in Angers' CHU from 2013 to 2019 including 229 patients referred for cutaneous tumors excision in need of reconstruction. We analyzed the type of reconstruction, size of the tissue loss and localization of the defect in terms of nose aesthetic subunits. RESULTS: Among the 229 patients included, the most frequent localization was nose tip (32%). 44% of patients were reconstructed with skin grafts or composite graft, 56% with flaps (48% local flaps and 4% association of both methods). Limited central resections of nose tip were reconstructed with skingraft. The Rybka flap and bilobed flap were the preferred choice for lateral reconstruction of nose tip. Largest tip defects were reconstructed using Rieger flap or forehead flap. The dorsum was often reconstructed with local flap: glabellar on the upper part, Rieger on the lower part. Lateral side was perfectly reconstructed with island flap. Nose wings needed framework: composite graft was the judicious choice in case of limited tissue loss whereas forehead flap with framework or Schmid-Meyer flap were chosen for larger defects. CONCLUSION: Our past experience in nasal reconstruction has provided us with an original decision tree to guide surgeons in choosing the right reconstruction technique according to the size and localization of the defect.

Hübner's tarsomarginal grafts in eyelid reconstruction: 94 cases.

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. The aim of this study was to determine the appropriate role of this uncommon technique in eyelid reconstruction. METHOD: In total, 94 tarsomarginal grafts were performed on 70 patients. Eight surgeons participated in this study. Data were retrospectively collected from patients' charts and all information regarding surgical indications, histology, defect size and topography, operative time, immediate result, and potential complications were recorded. RESULTS: Only one of the patients suffered total necrosis. Partial wound dehiscence occurred in one case and partial necrosis occurred in 6 cases. No major sequelae were observed in the donor eyelids. In 100% of cases, eyelid margin integrity was otherwise preserved. Four patients required revision surgery for insufficient malignancy resection and 13 patients for long-term eyelid ectropion or scar retraction. CONCLUSION: This simple and reliable technique ensured the closure of full-thickness eyelid defects covering up to 3/4 of the eyelid length. The procedure should be more widely used as it guarantees high-quality eyelid reconstruction.

[X short arm deletion and Turner syndrome. A new case 46, X, del (X) (p11) (author's transl)]. / Délétion du petit bras d'un chromosome X et syndrome de Turner. Un nouveau cas : 46, X, del (X) (p11).

From a new case of a young woman with a rare X short arm deletion on band 11 and review of literature, it is suggested that loss of short arm by juxta-centromeric break does not involve complete somatic Turner syndrome. Short stature depends on distal deletion (p21 or p22). The p11 - p21 segment of X chromosome carries a gene essential for gonadal development.

[Agenesis of the corpus callosum in a man with complete mosaic trisomy 8]. / Agénésie du corps calleux chez un homme ayant une trisomie 8 complète en mosaïque.

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.

Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature.

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.