Thrombotic Complications in Venous Malformations: Are There Differences Between Facial and Other Localizations?

Venous thrombosis (VT) is a frequent complication in venous malformations (VM) in relation with blood stasis and localized intravascular coagulopathy (LIC). Our aim was to describe the clinical characteristics and the treatment of patients with facial and non facial VM with VT. We implemented an observational retrospective study of patients with VM followed between 2002 and 2017. We compared features of facial and non facial VM. Descriptive and bivariate statistics were computed and the P value was set at 0.05. Fifty patients were included between 2002 and 2017. 24 of them were women (44%). The median age of the patients at diagnosis was 16,5 [8-31] years. The median follow up was 2 [2; 4] years. In non facial VM venous thrombosis occurred in 12 cases. In facial VM, 3 patients had thrombotic complication (15%). We demonstrate no difference of VT between facial VM and other localization. No patients had clinical risk factors for VT at diagnosis. Our study showed that VT is a frequent complication of VM and its proportion is not different between facial and non facial VM. Studies are needed to confirm the role of LIC in VT in VM, particularly in facial VM.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Hypopigmentation along Blaschko's lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Our findings pave the way toward elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Outcomes 18 months after the first human partial face transplantation.

BACKGROUND: We performed the first human partial face allograft on November 27, 2005. Here we report outcomes up to 18 months after transplantation. METHODS: The postsurgical induction immunosuppression protocol included thymoglobulins combined with tacrolimus, mycophenolate mofetil, and prednisone. Donor hematopoietic stem cells were infused on postoperative days 4 and 11. Sequential biopsy specimens were taken from a sentinel skin graft, the facial skin, and the oral mucosa. Functional progress was assessed by tests of sensory and motor function performed monthly. Psychological support was provided before and after transplantation. RESULTS: Sensitivity to light touch, as assessed with the use of static monofilaments, and sensitivity to heat and cold had returned to normal at 6 months after transplantation. Motor recovery was slower, and labial contact allowing complete mouth closure was achieved at 10 months. Psychological acceptance of the graft progressed as function improved. Rejection episodes occurred on days 18 and 214 after transplantation and were reversed. A decrease in inulin clearance led to a change in immunosuppressive regimen from tacrolimus to sirolimus at 14 months. Extracorporeal photochemotherapy was introduced at 10 months to prevent recurrence of rejection. There have been no subsequent rejection episodes. At 18 months, the patient is satisfied with the aesthetic result. CONCLUSIONS: In this patient who underwent the first partial face transplantation, the functional and aesthetic results 18 months after transplantation are satisfactory.

Ocular complications of atopic dermatitis in children.

Ocular complications of atopic dermatitis in adults are blepharitis, keratoconjunctivitis, keratoconus, uveitis, subcapsular cataract and retinal detachment. Their frequency varies from 25% to 50%. The aim of this study was to assess the frequency and type of ophthalmological complications in children with atopic dermatitis. The secondary objectives of the study were to determine whether there is a correlation between severity of atopic dermatitis, face involvement, external ocular signs and the presence of ocular complications, and to identify risk factors for ophthalmological complications. Thirty-seven boys and 22 girls, mean age 36.2 months, with atopic dermatitis were examined. Atopic dermatitis severity was mild according to the SCORAD index (31.6 +/- 17.0). Fifteen (25.4%) children had external ocular signs, one had a nuclear cataract, 11 had benign papillofollicular conjunctivitis, one had purulent bacterial conjunctivitis, one had chronic atopic blepharitis and one had amblyopia. Severity of atopic dermatitis, face involvement, and external ocular signs did not seem to influence the incidence of ocular involvement. This study suggests that severe ocular complications are rare in young children with mild atopic dermatitis.